- NHS North West Genomics v2.2.0

NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
: NHS England Genomic Clinical Indication Code

Active as of 2026-09-08
Raw xml | Download

<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="GenomicClinicalIndication"/>
  <language value="en"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: CodeSystem GenomicClinicalIndication</b></p><a name="GenomicClinicalIndication"> </a><a name="hcGenomicClinicalIndication"> </a><p>This case-sensitive code system <code>https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication</code> provides <b>a fragment</b> that includes following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style="white-space:nowrap">R14<a name="GenomicClinicalIndication-R14"> </a></td><td>Acutely unwell children with a likely monogenic disorder</td></tr><tr><td style="white-space:nowrap">R15<a name="GenomicClinicalIndication-R15"> </a></td><td>Primary immunodeficiency or monogenic inflammatory bowel disease</td></tr><tr><td style="white-space:nowrap">R16<a name="GenomicClinicalIndication-R16"> </a></td><td>Severe combined immunodeficiency with adenosine deaminase deficiency</td></tr><tr><td style="white-space:nowrap">R17<a name="GenomicClinicalIndication-R17"> </a></td><td>Lymphoproliferative syndrome with absent SAP expression</td></tr><tr><td style="white-space:nowrap">R18<a name="GenomicClinicalIndication-R18"> </a></td><td>Haemophagocytic syndrome with absent XIAP expression</td></tr><tr><td style="white-space:nowrap">R19<a name="GenomicClinicalIndication-R19"> </a></td><td>Autoimmune lymphoproliferative syndrome with defective apoptosis</td></tr><tr><td style="white-space:nowrap">R20<a name="GenomicClinicalIndication-R20"> </a></td><td>Wiskott-Aldrich syndrome</td></tr><tr><td style="white-space:nowrap">R21<a name="GenomicClinicalIndication-R21"> </a></td><td>Fetal anomalies with a likely genetic cause</td></tr><tr><td style="white-space:nowrap">R22<a name="GenomicClinicalIndication-R22"> </a></td><td>Fetus with a likely chromosomal abnormality</td></tr><tr><td style="white-space:nowrap">R23<a name="GenomicClinicalIndication-R23"> </a></td><td>Apert syndrome</td></tr><tr><td style="white-space:nowrap">R24<a name="GenomicClinicalIndication-R24"> </a></td><td>Achondroplasia</td></tr><tr><td style="white-space:nowrap">R25<a name="GenomicClinicalIndication-R25"> </a></td><td>Thanatophoric dysplasia</td></tr><tr><td style="white-space:nowrap">R26<a name="GenomicClinicalIndication-R26"> </a></td><td>Likely common aneuploidy</td></tr><tr><td style="white-space:nowrap">R27<a name="GenomicClinicalIndication-R27"> </a></td><td>Paediatric disorders</td></tr><tr><td style="white-space:nowrap">R28<a name="GenomicClinicalIndication-R28"> </a></td><td>Congenital malformation and dysmorphism syndromes</td></tr><tr><td style="white-space:nowrap">R31<a name="GenomicClinicalIndication-R31"> </a></td><td>Bilateral congenital or childhood onset cataracts</td></tr><tr><td style="white-space:nowrap">R32<a name="GenomicClinicalIndication-R32"> </a></td><td>Retinal disorders</td></tr><tr><td style="white-space:nowrap">R33<a name="GenomicClinicalIndication-R33"> </a></td><td>Possible X-linked retinitis pigmentosa</td></tr><tr><td style="white-space:nowrap">R36<a name="GenomicClinicalIndication-R36"> </a></td><td>Structural eye disease</td></tr><tr><td style="white-space:nowrap">R38<a name="GenomicClinicalIndication-R38"> </a></td><td>Sporadic aniridia</td></tr><tr><td style="white-space:nowrap">R39<a name="GenomicClinicalIndication-R39"> </a></td><td>Albinism or congenital nystagmus</td></tr><tr><td style="white-space:nowrap">R41<a name="GenomicClinicalIndication-R41"> </a></td><td>Optic neuropathy</td></tr><tr><td style="white-space:nowrap">R42<a name="GenomicClinicalIndication-R42"> </a></td><td>Leber hereditary optic neuropathy</td></tr><tr><td style="white-space:nowrap">R43<a name="GenomicClinicalIndication-R43"> </a></td><td>Blepharophimosis ptosis and epicanthus inversus</td></tr><tr><td style="white-space:nowrap">R45<a name="GenomicClinicalIndication-R45"> </a></td><td>Stickler syndrome</td></tr><tr><td style="white-space:nowrap">R46<a name="GenomicClinicalIndication-R46"> </a></td><td>Congenital fibrosis of the extraocular muscles</td></tr><tr><td style="white-space:nowrap">R47<a name="GenomicClinicalIndication-R47"> </a></td><td>Angelman syndrome</td></tr><tr><td style="white-space:nowrap">R48<a name="GenomicClinicalIndication-R48"> </a></td><td>Prader-Willi syndrome</td></tr><tr><td style="white-space:nowrap">R49<a name="GenomicClinicalIndication-R49"> </a></td><td>Beckwith-Wiedemann syndrome</td></tr><tr><td style="white-space:nowrap">R50<a name="GenomicClinicalIndication-R50"> </a></td><td>Isolated hemihypertrophy or macroglossia</td></tr><tr><td style="white-space:nowrap">R52<a name="GenomicClinicalIndication-R52"> </a></td><td>Short stature - SHOX deficiency</td></tr><tr><td style="white-space:nowrap">R54<a name="GenomicClinicalIndication-R54"> </a></td><td>Hereditary ataxia with onset in adulthood</td></tr><tr><td style="white-space:nowrap">R55<a name="GenomicClinicalIndication-R55"> </a></td><td>Hereditary ataxia with onset in childhood</td></tr><tr><td style="white-space:nowrap">R56<a name="GenomicClinicalIndication-R56"> </a></td><td>Adult onset dystonia, chorea or related movement disorder</td></tr><tr><td style="white-space:nowrap">R57<a name="GenomicClinicalIndication-R57"> </a></td><td>Childhood onset dystonia, chorea or related movement disorder</td></tr><tr><td style="white-space:nowrap">R60<a name="GenomicClinicalIndication-R60"> </a></td><td>Adult onset hereditary spastic paraplegia</td></tr><tr><td style="white-space:nowrap">R61<a name="GenomicClinicalIndication-R61"> </a></td><td>Childhood onset hereditary spastic paraplegia</td></tr><tr><td style="white-space:nowrap">R62<a name="GenomicClinicalIndication-R62"> </a></td><td>Adult onset leukodystrophy</td></tr><tr><td style="white-space:nowrap">R63<a name="GenomicClinicalIndication-R63"> </a></td><td>Possible mitochondrial disorder - nuclear genes</td></tr><tr><td style="white-space:nowrap">R64<a name="GenomicClinicalIndication-R64"> </a></td><td>MELAS or MIDD</td></tr><tr><td style="white-space:nowrap">R65<a name="GenomicClinicalIndication-R65"> </a></td><td>Aminoglycoside exposure posing risk to hearing</td></tr><tr><td style="white-space:nowrap">R66<a name="GenomicClinicalIndication-R66"> </a></td><td>Paroxysmal central nervous system disorders</td></tr><tr><td style="white-space:nowrap">R67<a name="GenomicClinicalIndication-R67"> </a></td><td>Monogenic hearing loss</td></tr><tr><td style="white-space:nowrap">R68<a name="GenomicClinicalIndication-R68"> </a></td><td>Huntington disease</td></tr><tr><td style="white-space:nowrap">R69<a name="GenomicClinicalIndication-R69"> </a></td><td>Hypotonic infant</td></tr><tr><td style="white-space:nowrap">R70<a name="GenomicClinicalIndication-R70"> </a></td><td>Spinal muscular atrophy type 1 diagnostic test</td></tr><tr><td style="white-space:nowrap">R71<a name="GenomicClinicalIndication-R71"> </a></td><td>Spinal muscular atrophy type 1 rare variant testing</td></tr><tr><td style="white-space:nowrap">R72<a name="GenomicClinicalIndication-R72"> </a></td><td>Myotonic dystrophy type 1</td></tr><tr><td style="white-space:nowrap">R73<a name="GenomicClinicalIndication-R73"> </a></td><td>Duchenne or Becker muscular dystrophy</td></tr><tr><td style="white-space:nowrap">R74<a name="GenomicClinicalIndication-R74"> </a></td><td>Facioscapulohumeral muscular dystrophy</td></tr><tr><td style="white-space:nowrap">R75<a name="GenomicClinicalIndication-R75"> </a></td><td>Oculopharyngeal muscular dystrophy</td></tr><tr><td style="white-space:nowrap">R76<a name="GenomicClinicalIndication-R76"> </a></td><td>Skeletal muscle channelopathy</td></tr><tr><td style="white-space:nowrap">R77<a name="GenomicClinicalIndication-R77"> </a></td><td>Hereditary neuropathy - PMP22 copy number</td></tr><tr><td style="white-space:nowrap">R78<a name="GenomicClinicalIndication-R78"> </a></td><td>Hereditary neuropathy or pain disorder</td></tr><tr><td style="white-space:nowrap">R79<a name="GenomicClinicalIndication-R79"> </a></td><td>Congenital muscular dystrophy</td></tr><tr><td style="white-space:nowrap">R80<a name="GenomicClinicalIndication-R80"> </a></td><td>Congenital myaesthenic syndrome</td></tr><tr><td style="white-space:nowrap">R81<a name="GenomicClinicalIndication-R81"> </a></td><td>Congenital myopathy</td></tr><tr><td style="white-space:nowrap">R82<a name="GenomicClinicalIndication-R82"> </a></td><td>Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies</td></tr><tr><td style="white-space:nowrap">R83<a name="GenomicClinicalIndication-R83"> </a></td><td>Arthrogryposis</td></tr><tr><td style="white-space:nowrap">R84<a name="GenomicClinicalIndication-R84"> </a></td><td>Cerebellar anomalies</td></tr><tr><td style="white-space:nowrap">R85<a name="GenomicClinicalIndication-R85"> </a></td><td>Holoprosencephaly - NOT chromosomal</td></tr><tr><td style="white-space:nowrap">R86<a name="GenomicClinicalIndication-R86"> </a></td><td>Hydrocephalus</td></tr><tr><td style="white-space:nowrap">R87<a name="GenomicClinicalIndication-R87"> </a></td><td>Cerebral malformation</td></tr><tr><td style="white-space:nowrap">R88<a name="GenomicClinicalIndication-R88"> </a></td><td>Severe microcephaly</td></tr><tr><td style="white-space:nowrap">R89<a name="GenomicClinicalIndication-R89"> </a></td><td>Ultra-rare and atypical monogenic disorders</td></tr><tr><td style="white-space:nowrap">R90<a name="GenomicClinicalIndication-R90"> </a></td><td>Bleeding and platelet disorders</td></tr><tr><td style="white-space:nowrap">R91<a name="GenomicClinicalIndication-R91"> </a></td><td>Cytopenia - NOT Fanconi anaemia</td></tr><tr><td style="white-space:nowrap">R92<a name="GenomicClinicalIndication-R92"> </a></td><td>Rare anaemia</td></tr><tr><td style="white-space:nowrap">R93<a name="GenomicClinicalIndication-R93"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies</td></tr><tr><td style="white-space:nowrap">R95<a name="GenomicClinicalIndication-R95"> </a></td><td>Iron overload - hereditary haemochromatosis testing</td></tr><tr><td style="white-space:nowrap">R96<a name="GenomicClinicalIndication-R96"> </a></td><td>Iron metabolism disorders - NOT common HFE  variants</td></tr><tr><td style="white-space:nowrap">R97<a name="GenomicClinicalIndication-R97"> </a></td><td>Thrombophilia with a likely monogenic cause</td></tr><tr><td style="white-space:nowrap">R98<a name="GenomicClinicalIndication-R98"> </a></td><td>Likely inborn error of metabolism</td></tr><tr><td style="white-space:nowrap">R99<a name="GenomicClinicalIndication-R99"> </a></td><td>Common craniosynostosis syndromes</td></tr><tr><td style="white-space:nowrap">R100<a name="GenomicClinicalIndication-R100"> </a></td><td>Rare syndromic craniosynostosis or isolated multisuture synostosis</td></tr><tr><td style="white-space:nowrap">R101<a name="GenomicClinicalIndication-R101"> </a></td><td>Ehlers Danlos syndrome with a likely monogenic cause</td></tr><tr><td style="white-space:nowrap">R102<a name="GenomicClinicalIndication-R102"> </a></td><td>Osteogenesis imperfecta</td></tr><tr><td style="white-space:nowrap">R104<a name="GenomicClinicalIndication-R104"> </a></td><td>Skeletal dysplasia</td></tr><tr><td style="white-space:nowrap">R105<a name="GenomicClinicalIndication-R105"> </a></td><td>MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow up</td></tr><tr><td style="white-space:nowrap">R106<a name="GenomicClinicalIndication-R106"> </a></td><td>Alstrom syndrome</td></tr><tr><td style="white-space:nowrap">R107<a name="GenomicClinicalIndication-R107"> </a></td><td>Bardet Biedl syndrome</td></tr><tr><td style="white-space:nowrap">R109<a name="GenomicClinicalIndication-R109"> </a></td><td>Childhood onset leukodystrophy</td></tr><tr><td style="white-space:nowrap">R110<a name="GenomicClinicalIndication-R110"> </a></td><td>Segmental overgrowth disorders - Deep sequencing</td></tr><tr><td style="white-space:nowrap">R111<a name="GenomicClinicalIndication-R111"> </a></td><td>X-inactivation testing</td></tr><tr><td style="white-space:nowrap">R112<a name="GenomicClinicalIndication-R112"> </a></td><td>Factor II deficiency</td></tr><tr><td style="white-space:nowrap">R115<a name="GenomicClinicalIndication-R115"> </a></td><td>Factor V deficiency</td></tr><tr><td style="white-space:nowrap">R116<a name="GenomicClinicalIndication-R116"> </a></td><td>Factor VII deficiency</td></tr><tr><td style="white-space:nowrap">R117<a name="GenomicClinicalIndication-R117"> </a></td><td>Factor VIII deficiency</td></tr><tr><td style="white-space:nowrap">R118<a name="GenomicClinicalIndication-R118"> </a></td><td>Factor IX deficiency</td></tr><tr><td style="white-space:nowrap">R119<a name="GenomicClinicalIndication-R119"> </a></td><td>Factor X deficiency</td></tr><tr><td style="white-space:nowrap">R120<a name="GenomicClinicalIndication-R120"> </a></td><td>Factor XI deficiency</td></tr><tr><td style="white-space:nowrap">R121<a name="GenomicClinicalIndication-R121"> </a></td><td>von Willebrand disease</td></tr><tr><td style="white-space:nowrap">R122<a name="GenomicClinicalIndication-R122"> </a></td><td>Factor XIII deficiency</td></tr><tr><td style="white-space:nowrap">R123<a name="GenomicClinicalIndication-R123"> </a></td><td>Combined vitamin K-dependent clotting factor deficiency</td></tr><tr><td style="white-space:nowrap">R124<a name="GenomicClinicalIndication-R124"> </a></td><td>Combined factor V and VIII deficiency</td></tr><tr><td style="white-space:nowrap">R125<a name="GenomicClinicalIndication-R125"> </a></td><td>Thoracic aortic aneurysm or dissection</td></tr><tr><td style="white-space:nowrap">R127<a name="GenomicClinicalIndication-R127"> </a></td><td>Long QT syndrome</td></tr><tr><td style="white-space:nowrap">R128<a name="GenomicClinicalIndication-R128"> </a></td><td>Brugada syndrome and cardiac sodium channel disease</td></tr><tr><td style="white-space:nowrap">R129<a name="GenomicClinicalIndication-R129"> </a></td><td>Catecholaminergic polymorphic VT</td></tr><tr><td style="white-space:nowrap">R130<a name="GenomicClinicalIndication-R130"> </a></td><td>Short QT syndrome</td></tr><tr><td style="white-space:nowrap">R131<a name="GenomicClinicalIndication-R131"> </a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R132<a name="GenomicClinicalIndication-R132"> </a></td><td>Dilated and Arrhythmogenic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R133<a name="GenomicClinicalIndication-R133"> </a></td><td>Arrhythmogenic right ventricular cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R134<a name="GenomicClinicalIndication-R134"> </a></td><td>Familial hypercholesterolaemia</td></tr><tr><td style="white-space:nowrap">R135<a name="GenomicClinicalIndication-R135"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R136<a name="GenomicClinicalIndication-R136"> </a></td><td>Primary lymphoedema</td></tr><tr><td style="white-space:nowrap">R137<a name="GenomicClinicalIndication-R137"> </a></td><td>Congenital heart disease - microarray</td></tr><tr><td style="white-space:nowrap">R138<a name="GenomicClinicalIndication-R138"> </a></td><td>Sudden unexplained death or survivors of a cardiac event</td></tr><tr><td style="white-space:nowrap">R139<a name="GenomicClinicalIndication-R139"> </a></td><td>Laterality disorders and isomerism</td></tr><tr><td style="white-space:nowrap">R140<a name="GenomicClinicalIndication-R140"> </a></td><td>Elastin-related phenotypes</td></tr><tr><td style="white-space:nowrap">R141<a name="GenomicClinicalIndication-R141"> </a></td><td>Monogenic diabetes</td></tr><tr><td style="white-space:nowrap">R142<a name="GenomicClinicalIndication-R142"> </a></td><td>Glucokinase-related fasting hyperglycaemia</td></tr><tr><td style="white-space:nowrap">R143<a name="GenomicClinicalIndication-R143"> </a></td><td>Neonatal diabetes</td></tr><tr><td style="white-space:nowrap">R144<a name="GenomicClinicalIndication-R144"> </a></td><td>Congenital hyperinsulinism</td></tr><tr><td style="white-space:nowrap">R145<a name="GenomicClinicalIndication-R145"> </a></td><td>Congenital hypothyroidism</td></tr><tr><td style="white-space:nowrap">R146<a name="GenomicClinicalIndication-R146"> </a></td><td>Differences in sex development</td></tr><tr><td style="white-space:nowrap">R148<a name="GenomicClinicalIndication-R148"> </a></td><td>Hypogonadotropic hypogonadism</td></tr><tr><td style="white-space:nowrap">R149<a name="GenomicClinicalIndication-R149"> </a></td><td>Severe early-onset obesity</td></tr><tr><td style="white-space:nowrap">R150<a name="GenomicClinicalIndication-R150"> </a></td><td>Congenital adrenal hypoplasia</td></tr><tr><td style="white-space:nowrap">R151<a name="GenomicClinicalIndication-R151"> </a></td><td>Familial hyperparathyroidism or Hypocalciuric hypercalcaemia</td></tr><tr><td style="white-space:nowrap">R153<a name="GenomicClinicalIndication-R153"> </a></td><td>Familial hypoparathyroidism</td></tr><tr><td style="white-space:nowrap">R154<a name="GenomicClinicalIndication-R154"> </a></td><td>Hypophosphataemia or rickets</td></tr><tr><td style="white-space:nowrap">R155<a name="GenomicClinicalIndication-R155"> </a></td><td>Autoimmune Polyendocrine Syndrome</td></tr><tr><td style="white-space:nowrap">R156<a name="GenomicClinicalIndication-R156"> </a></td><td>Carney complex</td></tr><tr><td style="white-space:nowrap">R157<a name="GenomicClinicalIndication-R157"> </a></td><td>IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked</td></tr><tr><td style="white-space:nowrap">R158<a name="GenomicClinicalIndication-R158"> </a></td><td>Severe insulin resistance and lipodystrophy syndromes</td></tr><tr><td style="white-space:nowrap">R159<a name="GenomicClinicalIndication-R159"> </a></td><td>Pituitary hormone deficiency</td></tr><tr><td style="white-space:nowrap">R160<a name="GenomicClinicalIndication-R160"> </a></td><td>Primary pigmented nodular adrenocortical disease</td></tr><tr><td style="white-space:nowrap">R162<a name="GenomicClinicalIndication-R162"> </a></td><td>Familial tumoral calcinosis</td></tr><tr><td style="white-space:nowrap">R163<a name="GenomicClinicalIndication-R163"> </a></td><td>Ectodermal dysplasia</td></tr><tr><td style="white-space:nowrap">R164<a name="GenomicClinicalIndication-R164"> </a></td><td>Epidermolysis bullosa and congenital skin fragility</td></tr><tr><td style="white-space:nowrap">R165<a name="GenomicClinicalIndication-R165"> </a></td><td>Ichthyosis and erythrokeratoderma</td></tr><tr><td style="white-space:nowrap">R166<a name="GenomicClinicalIndication-R166"> </a></td><td>Palmoplantar keratodermas</td></tr><tr><td style="white-space:nowrap">R167<a name="GenomicClinicalIndication-R167"> </a></td><td>Autosomal recessive primary hypertrophic osteoarthropathy</td></tr><tr><td style="white-space:nowrap">R168<a name="GenomicClinicalIndication-R168"> </a></td><td>Non-acute porphyrias</td></tr><tr><td style="white-space:nowrap">R169<a name="GenomicClinicalIndication-R169"> </a></td><td>Acute intermittent porphyria</td></tr><tr><td style="white-space:nowrap">R170<a name="GenomicClinicalIndication-R170"> </a></td><td>Variegate porphyria</td></tr><tr><td style="white-space:nowrap">R171<a name="GenomicClinicalIndication-R171"> </a></td><td>Cholestasis</td></tr><tr><td style="white-space:nowrap">R172<a name="GenomicClinicalIndication-R172"> </a></td><td>Wilson disease</td></tr><tr><td style="white-space:nowrap">R173<a name="GenomicClinicalIndication-R173"> </a></td><td>Polycystic liver disease</td></tr><tr><td style="white-space:nowrap">R175<a name="GenomicClinicalIndication-R175"> </a></td><td>Pancreatitis</td></tr><tr><td style="white-space:nowrap">R176<a name="GenomicClinicalIndication-R176"> </a></td><td>Gilbert syndrome</td></tr><tr><td style="white-space:nowrap">R180<a name="GenomicClinicalIndication-R180"> </a></td><td>Congenital adrenal hyperplasia diagnostic test</td></tr><tr><td style="white-space:nowrap">R181<a name="GenomicClinicalIndication-R181"> </a></td><td>Congenital adrenal hyperplasia carrier testing</td></tr><tr><td style="white-space:nowrap">R182<a name="GenomicClinicalIndication-R182"> </a></td><td>Hyperthyroidism</td></tr><tr><td style="white-space:nowrap">R183<a name="GenomicClinicalIndication-R183"> </a></td><td>Glucocorticoid-remediable aldosteronism (GRA)</td></tr><tr><td style="white-space:nowrap">R184<a name="GenomicClinicalIndication-R184"> </a></td><td>Cystic fibrosis diagnostic test</td></tr><tr><td style="white-space:nowrap">R185<a name="GenomicClinicalIndication-R185"> </a></td><td>Cystic fibrosis carrier testing</td></tr><tr><td style="white-space:nowrap">R186<a name="GenomicClinicalIndication-R186"> </a></td><td>Hereditary haemorrhagic telangiectasia</td></tr><tr><td style="white-space:nowrap">R188<a name="GenomicClinicalIndication-R188"> </a></td><td>Pulmonary arterial hypertension</td></tr><tr><td style="white-space:nowrap">R189<a name="GenomicClinicalIndication-R189"> </a></td><td>Respiratory ciliopathies including non-CF bronchiectasis</td></tr><tr><td style="white-space:nowrap">R190<a name="GenomicClinicalIndication-R190"> </a></td><td>Pneumothorax - familial</td></tr><tr><td style="white-space:nowrap">R191<a name="GenomicClinicalIndication-R191"> </a></td><td>Alpha-1-antitrypsin deficiency</td></tr><tr><td style="white-space:nowrap">R193<a name="GenomicClinicalIndication-R193"> </a></td><td>Cystic renal disease</td></tr><tr><td style="white-space:nowrap">R194<a name="GenomicClinicalIndication-R194"> </a></td><td>Haematuria</td></tr><tr><td style="white-space:nowrap">R195<a name="GenomicClinicalIndication-R195"> </a></td><td>Proteinuric renal disease</td></tr><tr><td style="white-space:nowrap">R196<a name="GenomicClinicalIndication-R196"> </a></td><td>CFHR5 nephropathy</td></tr><tr><td style="white-space:nowrap">R197<a name="GenomicClinicalIndication-R197"> </a></td><td>Membranoproliferative glomerulonephritis including C3 glomerulopathy</td></tr><tr><td style="white-space:nowrap">R198<a name="GenomicClinicalIndication-R198"> </a></td><td>Renal tubulopathies</td></tr><tr><td style="white-space:nowrap">R199<a name="GenomicClinicalIndication-R199"> </a></td><td>Congenital anomalies of the kidney and urinary tract - familial</td></tr><tr><td style="white-space:nowrap">R201<a name="GenomicClinicalIndication-R201"> </a></td><td>Atypical haemolytic uraemic syndrome</td></tr><tr><td style="white-space:nowrap">R202<a name="GenomicClinicalIndication-R202"> </a></td><td>Tubulointerstitial kidney disease</td></tr><tr><td style="white-space:nowrap">R204<a name="GenomicClinicalIndication-R204"> </a></td><td>Hereditary Systemic Amyloidosis</td></tr><tr><td style="white-space:nowrap">R207<a name="GenomicClinicalIndication-R207"> </a></td><td>Inherited ovarian cancer (without breast cancer)</td></tr><tr><td style="white-space:nowrap">R208<a name="GenomicClinicalIndication-R208"> </a></td><td>Inherited breast cancer and ovarian cancer</td></tr><tr><td style="white-space:nowrap">R210<a name="GenomicClinicalIndication-R210"> </a></td><td>Inherited MMR deficiency (Lynch syndrome)</td></tr><tr><td style="white-space:nowrap">R211<a name="GenomicClinicalIndication-R211"> </a></td><td>Inherited polyposis and early onset colorectal cancer - germline testing</td></tr><tr><td style="white-space:nowrap">R212<a name="GenomicClinicalIndication-R212"> </a></td><td>Peutz Jeghers Syndrome</td></tr><tr><td style="white-space:nowrap">R213<a name="GenomicClinicalIndication-R213"> </a></td><td>PTEN Hamartoma Tumor Syndrome</td></tr><tr><td style="white-space:nowrap">R214<a name="GenomicClinicalIndication-R214"> </a></td><td>Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome</td></tr><tr><td style="white-space:nowrap">R215<a name="GenomicClinicalIndication-R215"> </a></td><td>Hereditary diffuse gastric cancer</td></tr><tr><td style="white-space:nowrap">R216<a name="GenomicClinicalIndication-R216"> </a></td><td>Li Fraumeni Syndrome</td></tr><tr><td style="white-space:nowrap">R217<a name="GenomicClinicalIndication-R217"> </a></td><td>Endocrine neoplasia</td></tr><tr><td style="white-space:nowrap">R218<a name="GenomicClinicalIndication-R218"> </a></td><td>Multiple endocrine neoplasia type 2</td></tr><tr><td style="white-space:nowrap">R219<a name="GenomicClinicalIndication-R219"> </a></td><td>Retinoblastoma</td></tr><tr><td style="white-space:nowrap">R221<a name="GenomicClinicalIndication-R221"> </a></td><td>Familial tumours of the nervous system</td></tr><tr><td style="white-space:nowrap">R222<a name="GenomicClinicalIndication-R222"> </a></td><td>Neurofibromatosis type 1</td></tr><tr><td style="white-space:nowrap">R223<a name="GenomicClinicalIndication-R223"> </a></td><td>Inherited phaeochromocytoma and paraganglioma excluding NF1</td></tr><tr><td style="white-space:nowrap">R224<a name="GenomicClinicalIndication-R224"> </a></td><td>Inherited renal cancer</td></tr><tr><td style="white-space:nowrap">R225<a name="GenomicClinicalIndication-R225"> </a></td><td>Von Hippel Lindau syndrome</td></tr><tr><td style="white-space:nowrap">R226<a name="GenomicClinicalIndication-R226"> </a></td><td>Inherited parathyroid cancer</td></tr><tr><td style="white-space:nowrap">R227<a name="GenomicClinicalIndication-R227"> </a></td><td>Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome</td></tr><tr><td style="white-space:nowrap">R228<a name="GenomicClinicalIndication-R228"> </a></td><td>Tuberous sclerosis</td></tr><tr><td style="white-space:nowrap">R229<a name="GenomicClinicalIndication-R229"> </a></td><td>Confirmed Fanconi anaemia or Bloom syndrome - variant testing</td></tr><tr><td style="white-space:nowrap">R230<a name="GenomicClinicalIndication-R230"> </a></td><td>Multiple monogenic benign skin tumours</td></tr><tr><td style="white-space:nowrap">R231<a name="GenomicClinicalIndication-R231"> </a></td><td>Neuronal ceroid lipofuscinosis</td></tr><tr><td style="white-space:nowrap">R232<a name="GenomicClinicalIndication-R232"> </a></td><td>Haemophagocytic syndrome with absent perforin expression</td></tr><tr><td style="white-space:nowrap">R233<a name="GenomicClinicalIndication-R233"> </a></td><td>Agammaglobulinaemia with absent BTK expression</td></tr><tr><td style="white-space:nowrap">R234<a name="GenomicClinicalIndication-R234"> </a></td><td>Severe combined immunodeficiency with PNP deficiency</td></tr><tr><td style="white-space:nowrap">R235<a name="GenomicClinicalIndication-R235"> </a></td><td>SCID with features of gamma chain deficiency</td></tr><tr><td style="white-space:nowrap">R236<a name="GenomicClinicalIndication-R236"> </a></td><td>Pigmentary skin disorders</td></tr><tr><td style="white-space:nowrap">R237<a name="GenomicClinicalIndication-R237"> </a></td><td>Cutaneous photosensitivity with a likely genetic cause</td></tr><tr><td style="white-space:nowrap">R239<a name="GenomicClinicalIndication-R239"> </a></td><td>Incontinentia pigmenti</td></tr><tr><td style="white-space:nowrap">R240<a name="GenomicClinicalIndication-R240"> </a></td><td>Diagnostic testing for known variant(s)</td></tr><tr><td style="white-space:nowrap">R242<a name="GenomicClinicalIndication-R242"> </a></td><td>Predictive testing for known familial variant(s)</td></tr><tr><td style="white-space:nowrap">R244<a name="GenomicClinicalIndication-R244"> </a></td><td>Carrier testing for known familial variant(s)</td></tr><tr><td style="white-space:nowrap">R246<a name="GenomicClinicalIndication-R246"> </a></td><td>Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders</td></tr><tr><td style="white-space:nowrap">R249<a name="GenomicClinicalIndication-R249"> </a></td><td>NIPD using paternal exclusion testing for very rare conditions where familial variant is known</td></tr><tr><td style="white-space:nowrap">R250<a name="GenomicClinicalIndication-R250"> </a></td><td>NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing</td></tr><tr><td style="white-space:nowrap">R251<a name="GenomicClinicalIndication-R251"> </a></td><td>Non-invasive prenatal sexing</td></tr><tr><td style="white-space:nowrap">R252<a name="GenomicClinicalIndication-R252"> </a></td><td>SMA carrier testing at population risk for partners of known carriers</td></tr><tr><td style="white-space:nowrap">R253<a name="GenomicClinicalIndication-R253"> </a></td><td>Cystic fibrosis newborn screening follow-up</td></tr><tr><td style="white-space:nowrap">R254<a name="GenomicClinicalIndication-R254"> </a></td><td>Familial melanoma</td></tr><tr><td style="white-space:nowrap">R255<a name="GenomicClinicalIndication-R255"> </a></td><td>Epidermodysplasia verruciformis</td></tr><tr><td style="white-space:nowrap">R256<a name="GenomicClinicalIndication-R256"> </a></td><td>Nephrocalcinosis or nephrolithiasis</td></tr><tr><td style="white-space:nowrap">R257<a name="GenomicClinicalIndication-R257"> </a></td><td>Unexplained young onset end-stage renal disease</td></tr><tr><td style="white-space:nowrap">R258<a name="GenomicClinicalIndication-R258"> </a></td><td>Cytopenia - Fanconi breakage testing indicated</td></tr><tr><td style="white-space:nowrap">R259<a name="GenomicClinicalIndication-R259"> </a></td><td>Nijmegen breakage syndrome</td></tr><tr><td style="white-space:nowrap">R260<a name="GenomicClinicalIndication-R260"> </a></td><td>Fanconi anaemia or Bloom syndrome - chromosome breakage testing</td></tr><tr><td style="white-space:nowrap">R262<a name="GenomicClinicalIndication-R262"> </a></td><td>Corneal dystrophy</td></tr><tr><td style="white-space:nowrap">R263<a name="GenomicClinicalIndication-R263"> </a></td><td>Confirmation of uniparental disomy</td></tr><tr><td style="white-space:nowrap">R264<a name="GenomicClinicalIndication-R264"> </a></td><td>Identity testing</td></tr><tr><td style="white-space:nowrap">R265<a name="GenomicClinicalIndication-R265"> </a></td><td>Chromosomal mosaicism - karyotype</td></tr><tr><td style="white-space:nowrap">R268<a name="GenomicClinicalIndication-R268"> </a></td><td>Kagami-Ogata syndrome - paternal uniparental disomy 14</td></tr><tr><td style="white-space:nowrap">R270<a name="GenomicClinicalIndication-R270"> </a></td><td>Smith-Lemli-Opitz syndrome</td></tr><tr><td style="white-space:nowrap">R271<a name="GenomicClinicalIndication-R271"> </a></td><td>Neuronal ceroid lipofuscinosis type 2</td></tr><tr><td style="white-space:nowrap">R272<a name="GenomicClinicalIndication-R272"> </a></td><td>Gaucher disease</td></tr><tr><td style="white-space:nowrap">R273<a name="GenomicClinicalIndication-R273"> </a></td><td>Glycogen storage disease V</td></tr><tr><td style="white-space:nowrap">R274<a name="GenomicClinicalIndication-R274"> </a></td><td>Glycogen storage disease</td></tr><tr><td style="white-space:nowrap">R275<a name="GenomicClinicalIndication-R275"> </a></td><td>Glutaric acidaemia I newborn screening follow up</td></tr><tr><td style="white-space:nowrap">R276<a name="GenomicClinicalIndication-R276"> </a></td><td>Lysosomal storage disorder</td></tr><tr><td style="white-space:nowrap">R277<a name="GenomicClinicalIndication-R277"> </a></td><td>Mucopolysaccharidosis type IH/S</td></tr><tr><td style="white-space:nowrap">R278<a name="GenomicClinicalIndication-R278"> </a></td><td>Mucopolysaccharidosis type II</td></tr><tr><td style="white-space:nowrap">R279<a name="GenomicClinicalIndication-R279"> </a></td><td>Isovaleric acidaemia newborn screening follow up</td></tr><tr><td style="white-space:nowrap">R280<a name="GenomicClinicalIndication-R280"> </a></td><td>Krabbe disease – GALC deficiency</td></tr><tr><td style="white-space:nowrap">R281<a name="GenomicClinicalIndication-R281"> </a></td><td>Krabbe disease - Saposin A deficiency</td></tr><tr><td style="white-space:nowrap">R282<a name="GenomicClinicalIndication-R282"> </a></td><td>Niemann-Pick disease type A or B</td></tr><tr><td style="white-space:nowrap">R283<a name="GenomicClinicalIndication-R283"> </a></td><td>Phenylketonuria</td></tr><tr><td style="white-space:nowrap">R285<a name="GenomicClinicalIndication-R285"> </a></td><td>Sandhoff disease</td></tr><tr><td style="white-space:nowrap">R286<a name="GenomicClinicalIndication-R286"> </a></td><td>Tay-Sachs disease</td></tr><tr><td style="white-space:nowrap">R287<a name="GenomicClinicalIndication-R287"> </a></td><td>Mucopolysaccharidosis type IVA</td></tr><tr><td style="white-space:nowrap">R288<a name="GenomicClinicalIndication-R288"> </a></td><td>GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB</td></tr><tr><td style="white-space:nowrap">R289<a name="GenomicClinicalIndication-R289"> </a></td><td>Mucolipidosis II and III Alpha/Beta</td></tr><tr><td style="white-space:nowrap">R290<a name="GenomicClinicalIndication-R290"> </a></td><td>Mucopolysaccharidosis type VI</td></tr><tr><td style="white-space:nowrap">R291<a name="GenomicClinicalIndication-R291"> </a></td><td>Mucopolysaccharidosis type IIIA</td></tr><tr><td style="white-space:nowrap">R292<a name="GenomicClinicalIndication-R292"> </a></td><td>Mucopolysaccharidosis type IIIB</td></tr><tr><td style="white-space:nowrap">R293<a name="GenomicClinicalIndication-R293"> </a></td><td>Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis</td></tr><tr><td style="white-space:nowrap">R294<a name="GenomicClinicalIndication-R294"> </a></td><td>Ataxia telangiectasia - DNA repair testing</td></tr><tr><td style="white-space:nowrap">R295<a name="GenomicClinicalIndication-R295"> </a></td><td>Ataxia telangiectasia - variant testing</td></tr><tr><td style="white-space:nowrap">R296<a name="GenomicClinicalIndication-R296"> </a></td><td>RNA analysis of variants</td></tr><tr><td style="white-space:nowrap">R298<a name="GenomicClinicalIndication-R298"> </a></td><td>Possible structural or mosaic chromosomal abnormality - FISH</td></tr><tr><td style="white-space:nowrap">R299<a name="GenomicClinicalIndication-R299"> </a></td><td>Possible mitochondrial disorder - mitochondrial DNA rearrangement testing</td></tr><tr><td style="white-space:nowrap">R300<a name="GenomicClinicalIndication-R300"> </a></td><td>Possible mitochondrial disorder - whole mitochondrial genome sequencing</td></tr><tr><td style="white-space:nowrap">R301<a name="GenomicClinicalIndication-R301"> </a></td><td>Possible mitochondrial disorder - mitochondrial DNA depletion testing</td></tr><tr><td style="white-space:nowrap">R304<a name="GenomicClinicalIndication-R304"> </a></td><td>NIPD for cystic fibrosis - haplotype testing</td></tr><tr><td style="white-space:nowrap">R305<a name="GenomicClinicalIndication-R305"> </a></td><td>NIPD for cystic fibrosis - variant testing</td></tr><tr><td style="white-space:nowrap">R306<a name="GenomicClinicalIndication-R306"> </a></td><td>NIPD for Apert syndrome - variant testing</td></tr><tr><td style="white-space:nowrap">R307<a name="GenomicClinicalIndication-R307"> </a></td><td>NIPD for Crouzon syndrome with acanthosis nigricans - variant testing</td></tr><tr><td style="white-space:nowrap">R308<a name="GenomicClinicalIndication-R308"> </a></td><td>NIPD for FGFR2-related craniosynostosis syndromes - variant testing</td></tr><tr><td style="white-space:nowrap">R309<a name="GenomicClinicalIndication-R309"> </a></td><td>NIPD for FGFR3-related skeletal dysplasias - variant testing</td></tr><tr><td style="white-space:nowrap">R310<a name="GenomicClinicalIndication-R310"> </a></td><td>NIPD for Duchenne and Becker muscular dystrophy - haplotype testing</td></tr><tr><td style="white-space:nowrap">R311<a name="GenomicClinicalIndication-R311"> </a></td><td>NIPD for spinal muscular atrophy - variant testing</td></tr><tr><td style="white-space:nowrap">R312<a name="GenomicClinicalIndication-R312"> </a></td><td>Parental sequencing for lethal autosomal recessive disorders</td></tr><tr><td style="white-space:nowrap">R313<a name="GenomicClinicalIndication-R313"> </a></td><td>Neutropaenia consistent with ELANE variants</td></tr><tr><td style="white-space:nowrap">R314<a name="GenomicClinicalIndication-R314"> </a></td><td>Ambiguous genitalia</td></tr><tr><td style="white-space:nowrap">R315<a name="GenomicClinicalIndication-R315"> </a></td><td>POLG-related disorder</td></tr><tr><td style="white-space:nowrap">R316<a name="GenomicClinicalIndication-R316"> </a></td><td>Pyruvate dehydrogenase (PDH) deficiency</td></tr><tr><td style="white-space:nowrap">R317<a name="GenomicClinicalIndication-R317"> </a></td><td>Mitochondrial liver disease, including transient infantile liver failure</td></tr><tr><td style="white-space:nowrap">R318<a name="GenomicClinicalIndication-R318"> </a></td><td>Recurrent miscarriage with products of conception available for testing</td></tr><tr><td style="white-space:nowrap">R319<a name="GenomicClinicalIndication-R319"> </a></td><td>Calcium-sensing receptor phenotypes</td></tr><tr><td style="white-space:nowrap">R320<a name="GenomicClinicalIndication-R320"> </a></td><td>Invasive prenatal diagnosis requiring fetal sexing</td></tr><tr><td style="white-space:nowrap">R321<a name="GenomicClinicalIndication-R321"> </a></td><td>Maternal cell contamination testing</td></tr><tr><td style="white-space:nowrap">R322<a name="GenomicClinicalIndication-R322"> </a></td><td>Skin fibroblasts to be cultured and stored</td></tr><tr><td style="white-space:nowrap">R323<a name="GenomicClinicalIndication-R323"> </a></td><td>Sitosterolaemia</td></tr><tr><td style="white-space:nowrap">R324<a name="GenomicClinicalIndication-R324"> </a></td><td>Familial Chylomicronaemia Syndrome (FCS)</td></tr><tr><td style="white-space:nowrap">R325<a name="GenomicClinicalIndication-R325"> </a></td><td>Lysosomal acid lipase deficiency</td></tr><tr><td style="white-space:nowrap">R326<a name="GenomicClinicalIndication-R326"> </a></td><td>Vascular skin disorders</td></tr><tr><td style="white-space:nowrap">R327<a name="GenomicClinicalIndication-R327"> </a></td><td>Mosaic skin disorders - deep sequencing</td></tr><tr><td style="white-space:nowrap">R328<a name="GenomicClinicalIndication-R328"> </a></td><td>Progressive cardiac conduction disease</td></tr><tr><td style="white-space:nowrap">R329<a name="GenomicClinicalIndication-R329"> </a></td><td>Familial dysalbuminaemic hyperthyroxinaemia</td></tr><tr><td style="white-space:nowrap">R330<a name="GenomicClinicalIndication-R330"> </a></td><td>Alveolar capillary dysplasia with misalignment of pulmonary veins</td></tr><tr><td style="white-space:nowrap">R331<a name="GenomicClinicalIndication-R331"> </a></td><td>Intestinal failure or congenital diarrhoea</td></tr><tr><td style="white-space:nowrap">R332<a name="GenomicClinicalIndication-R332"> </a></td><td>Rare genetic inflammatory skin disorders</td></tr><tr><td style="white-space:nowrap">R333<a name="GenomicClinicalIndication-R333"> </a></td><td>Central congenital hypoventilation</td></tr><tr><td style="white-space:nowrap">R334<a name="GenomicClinicalIndication-R334"> </a></td><td>Cystinosis</td></tr><tr><td style="white-space:nowrap">R335<a name="GenomicClinicalIndication-R335"> </a></td><td>Fabry disease</td></tr><tr><td style="white-space:nowrap">R336<a name="GenomicClinicalIndication-R336"> </a></td><td>Cerebral vascular malformations</td></tr><tr><td style="white-space:nowrap">R337<a name="GenomicClinicalIndication-R337"> </a></td><td>CADASIL</td></tr><tr><td style="white-space:nowrap">R338<a name="GenomicClinicalIndication-R338"> </a></td><td>Monitoring for G(M)CSF escape variants</td></tr><tr><td style="white-space:nowrap">R340<a name="GenomicClinicalIndication-R340"> </a></td><td>Amelogenesis imperfecta</td></tr><tr><td style="white-space:nowrap">R341<a name="GenomicClinicalIndication-R341"> </a></td><td>Hereditary angioedema types I and II</td></tr><tr><td style="white-space:nowrap">R343<a name="GenomicClinicalIndication-R343"> </a></td><td>Chromosomal mosaicism - microarray</td></tr><tr><td style="white-space:nowrap">R344<a name="GenomicClinicalIndication-R344"> </a></td><td>Primary hyperaldosteronism - KCNJ5</td></tr><tr><td style="white-space:nowrap">R345<a name="GenomicClinicalIndication-R345"> </a></td><td>Facioscapulohumeral muscular dystrophy - extended testing</td></tr><tr><td style="white-space:nowrap">R346<a name="GenomicClinicalIndication-R346"> </a></td><td>DNA to be stored</td></tr><tr><td style="white-space:nowrap">R347<a name="GenomicClinicalIndication-R347"> </a></td><td>Inherited predisposition to acute myeloid leukaemia (AML)</td></tr><tr><td style="white-space:nowrap">R350<a name="GenomicClinicalIndication-R350"> </a></td><td>MERRF syndrome</td></tr><tr><td style="white-space:nowrap">R351<a name="GenomicClinicalIndication-R351"> </a></td><td>NARP syndrome or maternally inherited Leigh syndrome</td></tr><tr><td style="white-space:nowrap">R352<a name="GenomicClinicalIndication-R352"> </a></td><td>Mitochondrial DNA maintenance disorder</td></tr><tr><td style="white-space:nowrap">R353<a name="GenomicClinicalIndication-R353"> </a></td><td>Mitochondrial disorder with complex I deficiency</td></tr><tr><td style="white-space:nowrap">R354<a name="GenomicClinicalIndication-R354"> </a></td><td>Mitochondrial disorder with complex II deficiency</td></tr><tr><td style="white-space:nowrap">R355<a name="GenomicClinicalIndication-R355"> </a></td><td>Mitochondrial disorder with complex III deficiency</td></tr><tr><td style="white-space:nowrap">R356<a name="GenomicClinicalIndication-R356"> </a></td><td>Mitochondrial disorder with complex IV deficiency</td></tr><tr><td style="white-space:nowrap">R357<a name="GenomicClinicalIndication-R357"> </a></td><td>Mitochondrial disorder with complex V deficiency</td></tr><tr><td style="white-space:nowrap">R361<a name="GenomicClinicalIndication-R361"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing</td></tr><tr><td style="white-space:nowrap">R363<a name="GenomicClinicalIndication-R363"> </a></td><td>Inherited predisposition to GIST</td></tr><tr><td style="white-space:nowrap">R364<a name="GenomicClinicalIndication-R364"> </a></td><td>DICER1-related cancer predisposition</td></tr><tr><td style="white-space:nowrap">R365<a name="GenomicClinicalIndication-R365"> </a></td><td>Fumarate hydratase-related tumour syndromes</td></tr><tr><td style="white-space:nowrap">R366<a name="GenomicClinicalIndication-R366"> </a></td><td>Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)</td></tr><tr><td style="white-space:nowrap">R367<a name="GenomicClinicalIndication-R367"> </a></td><td>Inherited pancreatic cancer</td></tr><tr><td style="white-space:nowrap">R368<a name="GenomicClinicalIndication-R368"> </a></td><td>Hereditary angioedema type III</td></tr><tr><td style="white-space:nowrap">R370<a name="GenomicClinicalIndication-R370"> </a></td><td>Validation of unaccredited findings</td></tr><tr><td style="white-space:nowrap">R371<a name="GenomicClinicalIndication-R371"> </a></td><td>Malignant hyperthermia</td></tr><tr><td style="white-space:nowrap">R372<a name="GenomicClinicalIndication-R372"> </a></td><td>Newborn screening for sickle cell disease in a transfused baby</td></tr><tr><td style="white-space:nowrap">R373<a name="GenomicClinicalIndication-R373"> </a></td><td>RNA to be stored</td></tr><tr><td style="white-space:nowrap">R374<a name="GenomicClinicalIndication-R374"> </a></td><td>Other sample to be stored</td></tr><tr><td style="white-space:nowrap">R375<a name="GenomicClinicalIndication-R375"> </a></td><td>Family follow-up testing to aid variant interpretation</td></tr><tr><td style="white-space:nowrap">R376<a name="GenomicClinicalIndication-R376"> </a></td><td>Segmental or atypical neurofibromatosis type 1 testing</td></tr><tr><td style="white-space:nowrap">R380<a name="GenomicClinicalIndication-R380"> </a></td><td>Niemann Pick disease type C</td></tr><tr><td style="white-space:nowrap">R381<a name="GenomicClinicalIndication-R381"> </a></td><td>Other rare neuromuscular disorders</td></tr><tr><td style="white-space:nowrap">R382<a name="GenomicClinicalIndication-R382"> </a></td><td>Hypochondroplasia</td></tr><tr><td style="white-space:nowrap">R383<a name="GenomicClinicalIndication-R383"> </a></td><td>Linkage testing for Huntington disease</td></tr><tr><td style="white-space:nowrap">R384<a name="GenomicClinicalIndication-R384"> </a></td><td>Generalised arterial calcification in infancy</td></tr><tr><td style="white-space:nowrap">R387<a name="GenomicClinicalIndication-R387"> </a></td><td>Reanalysis of existing data</td></tr><tr><td style="white-space:nowrap">R389<a name="GenomicClinicalIndication-R389"> </a></td><td>NIPD - pre-pregnancy test work-up</td></tr><tr><td style="white-space:nowrap">R390<a name="GenomicClinicalIndication-R390"> </a></td><td>Multiple exostoses</td></tr><tr><td style="white-space:nowrap">R391<a name="GenomicClinicalIndication-R391"> </a></td><td>Barth syndrome</td></tr><tr><td style="white-space:nowrap">R394<a name="GenomicClinicalIndication-R394"> </a></td><td>Mitochondrial neurogastrointestinal encephalopathy</td></tr><tr><td style="white-space:nowrap">R395<a name="GenomicClinicalIndication-R395"> </a></td><td>Thiamine metabolism dysfunction syndrome 2</td></tr><tr><td style="white-space:nowrap">R396<a name="GenomicClinicalIndication-R396"> </a></td><td>Mitochondrial Complex V deficiency, TMEM70 type</td></tr><tr><td style="white-space:nowrap">R397<a name="GenomicClinicalIndication-R397"> </a></td><td>Maternally inherited cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R401<a name="GenomicClinicalIndication-R401"> </a></td><td>Common aneuploidy testing - prenatal</td></tr><tr><td style="white-space:nowrap">R402<a name="GenomicClinicalIndication-R402"> </a></td><td>Premature ovarian insufficiency</td></tr><tr><td style="white-space:nowrap">R403<a name="GenomicClinicalIndication-R403"> </a></td><td>MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up</td></tr><tr><td style="white-space:nowrap">R404<a name="GenomicClinicalIndication-R404"> </a></td><td>Testing of unaffected individuals for inherited cancer predisposition syndromes</td></tr><tr><td style="white-space:nowrap">R405<a name="GenomicClinicalIndication-R405"> </a></td><td>Hereditary Erythrocytosis</td></tr><tr><td style="white-space:nowrap">R406<a name="GenomicClinicalIndication-R406"> </a></td><td>Thrombocythaemia</td></tr><tr><td style="white-space:nowrap">R409<a name="GenomicClinicalIndication-R409"> </a></td><td>Linkage testing for other recognisable Mendelian disorders</td></tr><tr><td style="white-space:nowrap">R410<a name="GenomicClinicalIndication-R410"> </a></td><td>Myotonic dystrophy type 2 (DM2)</td></tr><tr><td style="white-space:nowrap">R411<a name="GenomicClinicalIndication-R411"> </a></td><td>Y chromosome microdeletion</td></tr><tr><td style="white-space:nowrap">R412<a name="GenomicClinicalIndication-R412"> </a></td><td>Fetal anomalies with a likely genetic cause - non urgent</td></tr><tr><td style="white-space:nowrap">R413<a name="GenomicClinicalIndication-R413"> </a></td><td>Autoinflammatory Disorders</td></tr><tr><td style="white-space:nowrap">R414<a name="GenomicClinicalIndication-R414"> </a></td><td>APC associated Polyposis</td></tr><tr><td style="white-space:nowrap">R416<a name="GenomicClinicalIndication-R416"> </a></td><td>Syndromic and non syndromic craniosynostosis involving midline sutures</td></tr><tr><td style="white-space:nowrap">R417<a name="GenomicClinicalIndication-R417"> </a></td><td>Multi Locus Imprinting Disorder (MLID)</td></tr><tr><td style="white-space:nowrap">R419<a name="GenomicClinicalIndication-R419"> </a></td><td>Acute Rhabdomyolysis</td></tr><tr><td style="white-space:nowrap">R420<a name="GenomicClinicalIndication-R420"> </a></td><td>Pseudoxanthoma elasticum</td></tr><tr><td style="white-space:nowrap">R421<a name="GenomicClinicalIndication-R421"> </a></td><td>Pulmonary Fibrosis, Familial</td></tr><tr><td style="white-space:nowrap">R422<a name="GenomicClinicalIndication-R422"> </a></td><td>BAP1 associated tumour predisposition syndrome</td></tr><tr><td style="white-space:nowrap">R423<a name="GenomicClinicalIndication-R423"> </a></td><td>NIPD for Retinoblastoma - haplotype testing</td></tr><tr><td style="white-space:nowrap">R424<a name="GenomicClinicalIndication-R424"> </a></td><td>Subcutaneous panniculitis T-cell lymphoma (SPTCL)</td></tr><tr><td style="white-space:nowrap">R426<a name="GenomicClinicalIndication-R426"> </a></td><td>Pulmonary alveolar microlithiasis</td></tr><tr><td style="white-space:nowrap">R428<a name="GenomicClinicalIndication-R428"> </a></td><td>Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)</td></tr><tr><td style="white-space:nowrap">R430<a name="GenomicClinicalIndication-R430"> </a></td><td>Inherited prostate cancer</td></tr><tr><td style="white-space:nowrap">R431<a name="GenomicClinicalIndication-R431"> </a></td><td>Genome-wide DNA Methylation Profiling to Aid Variant Interpretation</td></tr><tr><td style="white-space:nowrap">R433<a name="GenomicClinicalIndication-R433"> </a></td><td>Monogenic diabetes, subtype glucokinase - NIPT</td></tr><tr><td style="white-space:nowrap">R436<a name="GenomicClinicalIndication-R436"> </a></td><td>Hereditary alpha tryptasaemia</td></tr><tr><td style="white-space:nowrap">R438<a name="GenomicClinicalIndication-R438"> </a></td><td>Paediatric pseudo-obstruction syndrome</td></tr><tr><td style="white-space:nowrap">R440<a name="GenomicClinicalIndication-R440"> </a></td><td>Hereditary isolated diabetes insipidus</td></tr><tr><td style="white-space:nowrap">R441<a name="GenomicClinicalIndication-R441"> </a></td><td>Unexplained death in infancy and sudden unexplained death in childhood</td></tr><tr><td style="white-space:nowrap">R442<a name="GenomicClinicalIndication-R442"> </a></td><td>Variant re-interpretation</td></tr><tr><td style="white-space:nowrap">R443<a name="GenomicClinicalIndication-R443"> </a></td><td>Confirmation test</td></tr><tr><td style="white-space:nowrap">R444<a name="GenomicClinicalIndication-R444"> </a></td><td>NICE approved PARP inhibitor treatment</td></tr><tr><td style="white-space:nowrap">R445<a name="GenomicClinicalIndication-R445"> </a></td><td>T21, T18 and T13 aneuploidy testing - NIPT (previous history)</td></tr><tr><td style="white-space:nowrap">R446<a name="GenomicClinicalIndication-R446"> </a></td><td>APOL1 kidney donor testing</td></tr><tr><td style="white-space:nowrap">R447<a name="GenomicClinicalIndication-R447"> </a></td><td>Validation of WGS Diagnostic discovery</td></tr><tr><td style="white-space:nowrap">R448<a name="GenomicClinicalIndication-R448"> </a></td><td>Prenatal testing</td></tr><tr><td style="white-space:nowrap">R449<a name="GenomicClinicalIndication-R449"> </a></td><td>Diagnostic testing for Glutaric acidaemia I</td></tr><tr><td style="white-space:nowrap">R450<a name="GenomicClinicalIndication-R450"> </a></td><td>Diagnostic testing for Isovaleric acidaemia</td></tr><tr><td style="white-space:nowrap">R451<a name="GenomicClinicalIndication-R451"> </a></td><td>Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing</td></tr><tr><td style="white-space:nowrap">R452<a name="GenomicClinicalIndication-R452"> </a></td><td>Silver russell syndrome and Temple Syndrome</td></tr><tr><td style="white-space:nowrap">R453<a name="GenomicClinicalIndication-R453"> </a></td><td>Monogenic short stature</td></tr><tr><td style="white-space:nowrap">R454<a name="GenomicClinicalIndication-R454"> </a></td><td>Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R456<a name="GenomicClinicalIndication-R456"> </a></td><td>Embryonal tumour of possible germline origin</td></tr><tr><td style="white-space:nowrap">R457<a name="GenomicClinicalIndication-R457"> </a></td><td>Sarcoma of possible germline origin</td></tr><tr><td style="white-space:nowrap">R458<a name="GenomicClinicalIndication-R458"> </a></td><td>Young onset or familial dementia</td></tr><tr><td style="white-space:nowrap">R459<a name="GenomicClinicalIndication-R459"> </a></td><td>Young onset or complex Parkinson disease</td></tr><tr><td style="white-space:nowrap">R460<a name="GenomicClinicalIndication-R460"> </a></td><td>Amyotrophic lateral sclerosis</td></tr><tr><td style="white-space:nowrap">R461<a name="GenomicClinicalIndication-R461"> </a></td><td>Cerebral amyloid angiopathy</td></tr><tr><td style="white-space:nowrap">R462<a name="GenomicClinicalIndication-R462"> </a></td><td>Childhood interstitial lung disease</td></tr><tr><td style="white-space:nowrap">R463<a name="GenomicClinicalIndication-R463"> </a></td><td>Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis</td></tr><tr><td style="white-space:nowrap">R464<a name="GenomicClinicalIndication-R464"> </a></td><td>Recurrent miscarriage where products of conception are not available for testing - parental karyotype</td></tr><tr><td style="white-space:nowrap">R465<a name="GenomicClinicalIndication-R465"> </a></td><td>Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis</td></tr><tr><td style="white-space:nowrap">R466<a name="GenomicClinicalIndication-R466"> </a></td><td>Unexplained infertility - karyotype</td></tr><tr><td style="white-space:nowrap">R467<a name="GenomicClinicalIndication-R467"> </a></td><td>Gamete donors - karyotype</td></tr><tr><td style="white-space:nowrap">R468<a name="GenomicClinicalIndication-R468"> </a></td><td>Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis</td></tr><tr><td style="white-space:nowrap">R470<a name="GenomicClinicalIndication-R470"> </a></td><td>T21, T18, and T13 aneuploidy testing - NIPT NHS Fetal Anomaly Screening Programme (FASP)</td></tr><tr><td style="white-space:nowrap">R471<a name="GenomicClinicalIndication-R471"> </a></td><td>Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing</td></tr><tr><td style="white-space:nowrap">M1<a name="GenomicClinicalIndication-M1"> </a></td><td>Colorectal Carcinoma</td></tr><tr><td style="white-space:nowrap">M2<a name="GenomicClinicalIndication-M2"> </a></td><td>Ovarian Carcinoma</td></tr><tr><td style="white-space:nowrap">M3<a name="GenomicClinicalIndication-M3"> </a></td><td>Breast Cancer</td></tr><tr><td style="white-space:nowrap">M4<a name="GenomicClinicalIndication-M4"> </a></td><td>Non-Small Cell Lung Cancer</td></tr><tr><td style="white-space:nowrap">M5<a name="GenomicClinicalIndication-M5"> </a></td><td>Mesothelioma</td></tr><tr><td style="white-space:nowrap">M6<a name="GenomicClinicalIndication-M6"> </a></td><td>Mucoepidermoid Carcinoma</td></tr><tr><td style="white-space:nowrap">M7<a name="GenomicClinicalIndication-M7"> </a></td><td>Melanoma - Adult</td></tr><tr><td style="white-space:nowrap">M8<a name="GenomicClinicalIndication-M8"> </a></td><td>Gastrointestinal Stromal Tumour</td></tr><tr><td style="white-space:nowrap">M9<a name="GenomicClinicalIndication-M9"> </a></td><td>Thyroid Papillary Carcinoma - Adult</td></tr><tr><td style="white-space:nowrap">M10<a name="GenomicClinicalIndication-M10"> </a></td><td>Thyroid Follicular Carcinoma</td></tr><tr><td style="white-space:nowrap">M11<a name="GenomicClinicalIndication-M11"> </a></td><td>Poorly Differentiated Anaplastic Thyroid Carcinoma</td></tr><tr><td style="white-space:nowrap">M12<a name="GenomicClinicalIndication-M12"> </a></td><td>Thyroid Medullary Carcinoma</td></tr><tr><td style="white-space:nowrap">M13<a name="GenomicClinicalIndication-M13"> </a></td><td>Phaeochromocytoma</td></tr><tr><td style="white-space:nowrap">M14<a name="GenomicClinicalIndication-M14"> </a></td><td>Adrenal Cortical Carcinoma</td></tr><tr><td style="white-space:nowrap">M15<a name="GenomicClinicalIndication-M15"> </a></td><td>Head and Neck Squamous Cell Carcinoma</td></tr><tr><td style="white-space:nowrap">M16<a name="GenomicClinicalIndication-M16"> </a></td><td>Adenoid Cystic Carcinoma</td></tr><tr><td style="white-space:nowrap">M17<a name="GenomicClinicalIndication-M17"> </a></td><td>Secretory Carcinoma (Salivary Gland)</td></tr><tr><td style="white-space:nowrap">M18<a name="GenomicClinicalIndication-M18"> </a></td><td>Renal Cell Carcinoma - Adult</td></tr><tr><td style="white-space:nowrap">M42<a name="GenomicClinicalIndication-M42"> </a></td><td>Alveolar Rhabdomyosarcoma</td></tr><tr><td style="white-space:nowrap">M43<a name="GenomicClinicalIndication-M43"> </a></td><td>Alveolar Soft Part Sarcoma</td></tr><tr><td style="white-space:nowrap">M44<a name="GenomicClinicalIndication-M44"> </a></td><td>Aneurysmal Bone Cyst</td></tr><tr><td style="white-space:nowrap">M45<a name="GenomicClinicalIndication-M45"> </a></td><td>Angiomatoid Fibrous Histiocytoma</td></tr><tr><td style="white-space:nowrap">M46<a name="GenomicClinicalIndication-M46"> </a></td><td>Chondrosarcoma Conventional Central</td></tr><tr><td style="white-space:nowrap">M47<a name="GenomicClinicalIndication-M47"> </a></td><td>Chondroblastoma</td></tr><tr><td style="white-space:nowrap">M48<a name="GenomicClinicalIndication-M48"> </a></td><td>Clear Cell Sarcoma of Soft Tissue</td></tr><tr><td style="white-space:nowrap">M49<a name="GenomicClinicalIndication-M49"> </a></td><td>CNS Ewing Sarcoma Family Tumour With CIC Alteration</td></tr><tr><td style="white-space:nowrap">M50<a name="GenomicClinicalIndication-M50"> </a></td><td>Dermatofibrosarcoma Protuberans</td></tr><tr><td style="white-space:nowrap">M51<a name="GenomicClinicalIndication-M51"> </a></td><td>Desmoid-Type Fibromatosis</td></tr><tr><td style="white-space:nowrap">M52<a name="GenomicClinicalIndication-M52"> </a></td><td>Desmoplastic Small Round Cell Tumour</td></tr><tr><td style="white-space:nowrap">M53<a name="GenomicClinicalIndication-M53"> </a></td><td>Endometrial Stromal Sarcoma</td></tr><tr><td style="white-space:nowrap">M54<a name="GenomicClinicalIndication-M54"> </a></td><td>Epithelioid Haemangioendothelioma</td></tr><tr><td style="white-space:nowrap">M55<a name="GenomicClinicalIndication-M55"> </a></td><td>Ewing Like Sarcoma/PNET</td></tr><tr><td style="white-space:nowrap">M56<a name="GenomicClinicalIndication-M56"> </a></td><td>Ewing Sarcoma of Bone</td></tr><tr><td style="white-space:nowrap">M57<a name="GenomicClinicalIndication-M57"> </a></td><td>Ewing-Like Soft-Tissue Sarcoma</td></tr><tr><td style="white-space:nowrap">M58<a name="GenomicClinicalIndication-M58"> </a></td><td>Extraskeletal Myxoid Chondrosarcoma</td></tr><tr><td style="white-space:nowrap">M59<a name="GenomicClinicalIndication-M59"> </a></td><td>Fibrous Dysplasia/Myxomas (Mazabraud Syndrome)</td></tr><tr><td style="white-space:nowrap">M60<a name="GenomicClinicalIndication-M60"> </a></td><td>Giant Cell Tumour of Bone</td></tr><tr><td style="white-space:nowrap">M61<a name="GenomicClinicalIndication-M61"> </a></td><td>High-Grade Neuroepithelial Tumour-Bcor Group</td></tr><tr><td style="white-space:nowrap">M62<a name="GenomicClinicalIndication-M62"> </a></td><td>Infantile Fibrosarcoma</td></tr><tr><td style="white-space:nowrap">M63<a name="GenomicClinicalIndication-M63"> </a></td><td>Inflammatory Myofibroblastic Tumour</td></tr><tr><td style="white-space:nowrap">M64<a name="GenomicClinicalIndication-M64"> </a></td><td>Low Grade Fibromyxoid Sarcoma</td></tr><tr><td style="white-space:nowrap">M65<a name="GenomicClinicalIndication-M65"> </a></td><td>Mesenchymal Chondrosarcoma</td></tr><tr><td style="white-space:nowrap">M66<a name="GenomicClinicalIndication-M66"> </a></td><td>Myoepithelial Tumours of Soft Tissue</td></tr><tr><td style="white-space:nowrap">M67<a name="GenomicClinicalIndication-M67"> </a></td><td>Myxoid/Round Cell Liposarcoma</td></tr><tr><td style="white-space:nowrap">M68<a name="GenomicClinicalIndication-M68"> </a></td><td>Myxoinflammatory Fibroblastic Sarcoma</td></tr><tr><td style="white-space:nowrap">M69<a name="GenomicClinicalIndication-M69"> </a></td><td>Nodular Fasciitis</td></tr><tr><td style="white-space:nowrap">M70<a name="GenomicClinicalIndication-M70"> </a></td><td>Osteosarcoma</td></tr><tr><td style="white-space:nowrap">M71<a name="GenomicClinicalIndication-M71"> </a></td><td>Phosphaturic Mesenchymal Tumour</td></tr><tr><td style="white-space:nowrap">M72<a name="GenomicClinicalIndication-M72"> </a></td><td>Primitive Mesenchymal Myxoid Tumour of Infancy</td></tr><tr><td style="white-space:nowrap">M73<a name="GenomicClinicalIndication-M73"> </a></td><td>Pseudomyogenic Haemangioendothelioma</td></tr><tr><td style="white-space:nowrap">M74<a name="GenomicClinicalIndication-M74"> </a></td><td>Radiation Induced Angiosarcoma</td></tr><tr><td style="white-space:nowrap">M75<a name="GenomicClinicalIndication-M75"> </a></td><td>Round Cell Sarcoma Nos</td></tr><tr><td style="white-space:nowrap">M76<a name="GenomicClinicalIndication-M76"> </a></td><td>Sclerosing Epithelioid Fibrosarcoma</td></tr><tr><td style="white-space:nowrap">M77<a name="GenomicClinicalIndication-M77"> </a></td><td>Synovial Sarcoma</td></tr><tr><td style="white-space:nowrap">M78<a name="GenomicClinicalIndication-M78"> </a></td><td>Undifferentiated Round Cell Sarcoma of Infancy</td></tr><tr><td style="white-space:nowrap">M79<a name="GenomicClinicalIndication-M79"> </a></td><td>Well Differentiated/Dedifferentiated Liposarcoma</td></tr><tr><td style="white-space:nowrap">M119<a name="GenomicClinicalIndication-M119"> </a></td><td>Paediatric Tumours</td></tr><tr><td style="white-space:nowrap">M124<a name="GenomicClinicalIndication-M124"> </a></td><td>Clear Cell Kidney Sarcoma - Paediatric</td></tr><tr><td style="white-space:nowrap">M127<a name="GenomicClinicalIndication-M127"> </a></td><td>Congenital Mesoblastic Nephroma - Paediatric</td></tr><tr><td style="white-space:nowrap">M131<a name="GenomicClinicalIndication-M131"> </a></td><td>Cystic Nephroma - Paediatric</td></tr><tr><td style="white-space:nowrap">M143<a name="GenomicClinicalIndication-M143"> </a></td><td>Lung - Paediatric</td></tr><tr><td style="white-space:nowrap">M149<a name="GenomicClinicalIndication-M149"> </a></td><td>Melanotic Tumours - Paediatric</td></tr><tr><td style="white-space:nowrap">M151<a name="GenomicClinicalIndication-M151"> </a></td><td>Midline Carcinoma - Paediatric</td></tr><tr><td style="white-space:nowrap">M152<a name="GenomicClinicalIndication-M152"> </a></td><td>Neuroblastoma - Paediatric</td></tr><tr><td style="white-space:nowrap">M157<a name="GenomicClinicalIndication-M157"> </a></td><td>Thyroid Papillary Carcinoma - Paediatric</td></tr><tr><td style="white-space:nowrap">M161<a name="GenomicClinicalIndication-M161"> </a></td><td>Pleuropulmonary Blastoma - Paediatric</td></tr><tr><td style="white-space:nowrap">M165<a name="GenomicClinicalIndication-M165"> </a></td><td>Renal Tumours - Paediatric</td></tr><tr><td style="white-space:nowrap">M166<a name="GenomicClinicalIndication-M166"> </a></td><td>Retinoblastoma - Paediatric</td></tr><tr><td style="white-space:nowrap">M167<a name="GenomicClinicalIndication-M167"> </a></td><td>Rhabdoid Tumours - Paediatric</td></tr><tr><td style="white-space:nowrap">M173<a name="GenomicClinicalIndication-M173"> </a></td><td>t(6;11) Translocation-Associated Renal Cell Carcinoma - Paediatric</td></tr><tr><td style="white-space:nowrap">M174<a name="GenomicClinicalIndication-M174"> </a></td><td>Testicular - Paediatric</td></tr><tr><td style="white-space:nowrap">M178<a name="GenomicClinicalIndication-M178"> </a></td><td>Wilms Tumours - Paediatric</td></tr><tr><td style="white-space:nowrap">M180<a name="GenomicClinicalIndication-M180"> </a></td><td>Xp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric</td></tr><tr><td style="white-space:nowrap">M187<a name="GenomicClinicalIndication-M187"> </a></td><td>Uveal melanoma</td></tr><tr><td style="white-space:nowrap">M196<a name="GenomicClinicalIndication-M196"> </a></td><td>Bone Forming Soft Tissue Tumour Differential</td></tr><tr><td style="white-space:nowrap">M197<a name="GenomicClinicalIndication-M197"> </a></td><td>Round Cell Sarcoma of Soft Tissue Differential</td></tr><tr><td style="white-space:nowrap">M198<a name="GenomicClinicalIndication-M198"> </a></td><td>Vascular Soft Tissue Tumour Differential</td></tr><tr><td style="white-space:nowrap">M199<a name="GenomicClinicalIndication-M199"> </a></td><td>Spindle Cell Soft Tissue Tumour Differential</td></tr><tr><td style="white-space:nowrap">M200<a name="GenomicClinicalIndication-M200"> </a></td><td>Myxoid Soft Tissue Tumour Differential</td></tr><tr><td style="white-space:nowrap">M201<a name="GenomicClinicalIndication-M201"> </a></td><td>Adipocytic Soft Tissue Tumour Differential</td></tr><tr><td style="white-space:nowrap">M202<a name="GenomicClinicalIndication-M202"> </a></td><td>Epithelioid Soft Tissue Tumour Differential</td></tr><tr><td style="white-space:nowrap">M203<a name="GenomicClinicalIndication-M203"> </a></td><td>Uterine Sarcomas (Inc Endometrial)</td></tr><tr><td style="white-space:nowrap">M204<a name="GenomicClinicalIndication-M204"> </a></td><td>Undifferentiated tumour</td></tr><tr><td style="white-space:nowrap">M205<a name="GenomicClinicalIndication-M205"> </a></td><td>Cartilage Forming Bone Tumour Differential</td></tr><tr><td style="white-space:nowrap">M206<a name="GenomicClinicalIndication-M206"> </a></td><td>Bone Forming Bone Tumour Differential</td></tr><tr><td style="white-space:nowrap">M207<a name="GenomicClinicalIndication-M207"> </a></td><td>Osteoclast-Rich Bone Tumour Differential</td></tr><tr><td style="white-space:nowrap">M208<a name="GenomicClinicalIndication-M208"> </a></td><td>Round Cell Sarcoma of Bone Differential</td></tr><tr><td style="white-space:nowrap">M209<a name="GenomicClinicalIndication-M209"> </a></td><td>Vascular Tumour of Bone Differential</td></tr><tr><td style="white-space:nowrap">M210<a name="GenomicClinicalIndication-M210"> </a></td><td>Spindle Cell Tumour of Bone Differential</td></tr><tr><td style="white-space:nowrap">M211<a name="GenomicClinicalIndication-M211"> </a></td><td>Fibro-Osseous Tumour of Bone Differential</td></tr><tr><td style="white-space:nowrap">M212<a name="GenomicClinicalIndication-M212"> </a></td><td>Renal Tumour Differential - Paediatric</td></tr><tr><td style="white-space:nowrap">M215<a name="GenomicClinicalIndication-M215"> </a></td><td>Endometrial Cancer</td></tr><tr><td style="white-space:nowrap">M217<a name="GenomicClinicalIndication-M217"> </a></td><td>Urothelial Carcinoma</td></tr><tr><td style="white-space:nowrap">M218<a name="GenomicClinicalIndication-M218"> </a></td><td>Prostate Cancer</td></tr><tr><td style="white-space:nowrap">M219<a name="GenomicClinicalIndication-M219"> </a></td><td>Pancreatic Cancer</td></tr><tr><td style="white-space:nowrap">M220<a name="GenomicClinicalIndication-M220"> </a></td><td>Cholangiocarcinoma</td></tr><tr><td style="white-space:nowrap">M221<a name="GenomicClinicalIndication-M221"> </a></td><td>Spitzoid tumour</td></tr><tr><td style="white-space:nowrap">M222<a name="GenomicClinicalIndication-M222"> </a></td><td>Hepatocellular carcinoma</td></tr><tr><td style="white-space:nowrap">M226<a name="GenomicClinicalIndication-M226"> </a></td><td>Carcinoma of Unknown Primary</td></tr><tr><td style="white-space:nowrap">M227<a name="GenomicClinicalIndication-M227"> </a></td><td>Solid tumour other (i.e. specific histology not listed elsewhere in the test directory)</td></tr><tr><td style="white-space:nowrap">M231<a name="GenomicClinicalIndication-M231"> </a></td><td>Small cell lung cancer</td></tr><tr><td style="white-space:nowrap">M232<a name="GenomicClinicalIndication-M232"> </a></td><td>Solid Tumour Exhausted all Standards of Care Testing and Treatment- Adult</td></tr><tr><td style="white-space:nowrap">M233<a name="GenomicClinicalIndication-M233"> </a></td><td>High Grade Ovarian Carcinoma</td></tr><tr><td style="white-space:nowrap">M234<a name="GenomicClinicalIndication-M234"> </a></td><td>Triple Negative Breast Cancer</td></tr><tr><td style="white-space:nowrap">M236<a name="GenomicClinicalIndication-M236"> </a></td><td>Oesophageal Cancer</td></tr><tr><td style="white-space:nowrap">M237<a name="GenomicClinicalIndication-M237"> </a></td><td>Gastric Cancer</td></tr><tr><td style="white-space:nowrap">M238<a name="GenomicClinicalIndication-M238"> </a></td><td>Small Bowel Cancer</td></tr><tr><td style="white-space:nowrap">M239<a name="GenomicClinicalIndication-M239"> </a></td><td>Thyroid Hurtle Cell Carcinoma</td></tr><tr><td style="white-space:nowrap">M240<a name="GenomicClinicalIndication-M240"> </a></td><td>Non-invasive follicular thyroid neoplasm with papillary like nuclei</td></tr><tr><td style="white-space:nowrap">M241<a name="GenomicClinicalIndication-M241"> </a></td><td>Conjunctival melanoma</td></tr><tr><td style="white-space:nowrap">M242<a name="GenomicClinicalIndication-M242"> </a></td><td>Any patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)</td></tr><tr><td style="white-space:nowrap">M243<a name="GenomicClinicalIndication-M243"> </a></td><td>Thymic Carcinoma</td></tr><tr><td style="white-space:nowrap">M244<a name="GenomicClinicalIndication-M244"> </a></td><td>In all tumours eligible for NTRK1/2/3 testing</td></tr><tr><td style="white-space:nowrap">M245<a name="GenomicClinicalIndication-M245"> </a></td><td>Ovarian sex cord stromal tumours</td></tr><tr><td style="white-space:nowrap">M20<a name="GenomicClinicalIndication-M20"> </a></td><td>Anaplastic Astrocytoma</td></tr><tr><td style="white-space:nowrap">M21<a name="GenomicClinicalIndication-M21"> </a></td><td>Astrocytoma</td></tr><tr><td style="white-space:nowrap">M22<a name="GenomicClinicalIndication-M22"> </a></td><td>Diffuse Astrocytoma</td></tr><tr><td style="white-space:nowrap">M23<a name="GenomicClinicalIndication-M23"> </a></td><td>Diffuse Midline Glioma</td></tr><tr><td style="white-space:nowrap">M24<a name="GenomicClinicalIndication-M24"> </a></td><td>Embryonal Tumours with Multi-Layered Rosettes</td></tr><tr><td style="white-space:nowrap">M25<a name="GenomicClinicalIndication-M25"> </a></td><td>Ependymoma</td></tr><tr><td style="white-space:nowrap">M26<a name="GenomicClinicalIndication-M26"> </a></td><td>Ependymoma</td></tr><tr><td style="white-space:nowrap">M27<a name="GenomicClinicalIndication-M27"> </a></td><td>Glioblastoma</td></tr><tr><td style="white-space:nowrap">M28<a name="GenomicClinicalIndication-M28"> </a></td><td>Glioma</td></tr><tr><td style="white-space:nowrap">M29<a name="GenomicClinicalIndication-M29"> </a></td><td>High Grade Glioma</td></tr><tr><td style="white-space:nowrap">M30<a name="GenomicClinicalIndication-M30"> </a></td><td>IDH-Wildtype Glioblastoma</td></tr><tr><td style="white-space:nowrap">M31<a name="GenomicClinicalIndication-M31"> </a></td><td>Low Grade Glioma</td></tr><tr><td style="white-space:nowrap">M32<a name="GenomicClinicalIndication-M32"> </a></td><td>Low Grade Glioma/Glioneuronal Tumours</td></tr><tr><td style="white-space:nowrap">M33<a name="GenomicClinicalIndication-M33"> </a></td><td>Meningioma</td></tr><tr><td style="white-space:nowrap">M34<a name="GenomicClinicalIndication-M34"> </a></td><td>Non-Midline Glioma</td></tr><tr><td style="white-space:nowrap">M35<a name="GenomicClinicalIndication-M35"> </a></td><td>OligodendroGlioma</td></tr><tr><td style="white-space:nowrap">M36<a name="GenomicClinicalIndication-M36"> </a></td><td>Pilocytic Astrocytoma</td></tr><tr><td style="white-space:nowrap">M37<a name="GenomicClinicalIndication-M37"> </a></td><td>Pineoblastoma</td></tr><tr><td style="white-space:nowrap">M38<a name="GenomicClinicalIndication-M38"> </a></td><td>Pituitary Tumours</td></tr><tr><td style="white-space:nowrap">M39<a name="GenomicClinicalIndication-M39"> </a></td><td>Rare Primitive Neuroectodermal Tumours Groups 2/3</td></tr><tr><td style="white-space:nowrap">M80<a name="GenomicClinicalIndication-M80"> </a></td><td>Acute Myeloid Leukaemia</td></tr><tr><td style="white-space:nowrap">M81<a name="GenomicClinicalIndication-M81"> </a></td><td>Transient Abnormal Myelopoiesis</td></tr><tr><td style="white-space:nowrap">M82<a name="GenomicClinicalIndication-M82"> </a></td><td>Myelodysplasia</td></tr><tr><td style="white-space:nowrap">M83<a name="GenomicClinicalIndication-M83"> </a></td><td>Aplastic Anaemia</td></tr><tr><td style="white-space:nowrap">M84<a name="GenomicClinicalIndication-M84"> </a></td><td>Chronic Myeloid Leukaemia</td></tr><tr><td style="white-space:nowrap">M85<a name="GenomicClinicalIndication-M85"> </a></td><td>Myeloproliferative Neoplasm</td></tr><tr><td style="white-space:nowrap">M86<a name="GenomicClinicalIndication-M86"> </a></td><td>Systemic Mastocytosis</td></tr><tr><td style="white-space:nowrap">M87<a name="GenomicClinicalIndication-M87"> </a></td><td>Chronic Neutrophilic Leukaemia</td></tr><tr><td style="white-space:nowrap">M88<a name="GenomicClinicalIndication-M88"> </a></td><td>Juvenile Myelomonocytic Leukaemia</td></tr><tr><td style="white-space:nowrap">M89<a name="GenomicClinicalIndication-M89"> </a></td><td>Acute Leukaemia Other</td></tr><tr><td style="white-space:nowrap">M90<a name="GenomicClinicalIndication-M90"> </a></td><td>Blastic Plasmacytoid Dendritic Cell Neoplasm</td></tr><tr><td style="white-space:nowrap">M91<a name="GenomicClinicalIndication-M91"> </a></td><td>Acute Lymphoblastic Leukaemia</td></tr><tr><td style="white-space:nowrap">M92<a name="GenomicClinicalIndication-M92"> </a></td><td>Plasma Cell Dyscrasia</td></tr><tr><td style="white-space:nowrap">M93<a name="GenomicClinicalIndication-M93"> </a></td><td>Lymphoma</td></tr><tr><td style="white-space:nowrap">M94<a name="GenomicClinicalIndication-M94"> </a></td><td>Chronic Lymphocytic Leukaemia</td></tr><tr><td style="white-space:nowrap">M95<a name="GenomicClinicalIndication-M95"> </a></td><td>B cell Non-Hodgkin Lymphoma</td></tr><tr><td style="white-space:nowrap">M96<a name="GenomicClinicalIndication-M96"> </a></td><td>Burkitt Lymphoma</td></tr><tr><td style="white-space:nowrap">M97<a name="GenomicClinicalIndication-M97"> </a></td><td>Burkitt Like Lymphoma with 11q Abnormalities</td></tr><tr><td style="white-space:nowrap">M98<a name="GenomicClinicalIndication-M98"> </a></td><td>Large B Cell Like Lymphoma with IRF4 Rearrangement</td></tr><tr><td style="white-space:nowrap">M99<a name="GenomicClinicalIndication-M99"> </a></td><td>High Grade Lymphoma</td></tr><tr><td style="white-space:nowrap">M100<a name="GenomicClinicalIndication-M100"> </a></td><td>Primary Mediastinal B Cell Lymphoma</td></tr><tr><td style="white-space:nowrap">M101<a name="GenomicClinicalIndication-M101"> </a></td><td>ALK Positive Large B Cell Lymphoma</td></tr><tr><td style="white-space:nowrap">M102<a name="GenomicClinicalIndication-M102"> </a></td><td>Mantle Cell Lymphoma</td></tr><tr><td style="white-space:nowrap">M103<a name="GenomicClinicalIndication-M103"> </a></td><td>Follicular Lymphoma</td></tr><tr><td style="white-space:nowrap">M104<a name="GenomicClinicalIndication-M104"> </a></td><td>Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinaemia</td></tr><tr><td style="white-space:nowrap">M105<a name="GenomicClinicalIndication-M105"> </a></td><td>Igm Monoclonal Gammopathy of Uncertain Significance</td></tr><tr><td style="white-space:nowrap">M106<a name="GenomicClinicalIndication-M106"> </a></td><td>Intra-Ocular Lymphoma</td></tr><tr><td style="white-space:nowrap">M107<a name="GenomicClinicalIndication-M107"> </a></td><td>Malt-Lymphoma</td></tr><tr><td style="white-space:nowrap">M108<a name="GenomicClinicalIndication-M108"> </a></td><td>Hairy Cell Leukaemia</td></tr><tr><td style="white-space:nowrap">M109<a name="GenomicClinicalIndication-M109"> </a></td><td>Hairy Cell Leukaemia</td></tr><tr><td style="white-space:nowrap">M110<a name="GenomicClinicalIndication-M110"> </a></td><td>Paediatric Type Follicular Lymphoma</td></tr><tr><td style="white-space:nowrap">M111<a name="GenomicClinicalIndication-M111"> </a></td><td>T Cell Non-Hodgkin Lymphoma</td></tr><tr><td style="white-space:nowrap">M112<a name="GenomicClinicalIndication-M112"> </a></td><td>ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes)</td></tr><tr><td style="white-space:nowrap">M113<a name="GenomicClinicalIndication-M113"> </a></td><td>T Prolymphocytic Leukaemia</td></tr><tr><td style="white-space:nowrap">M114<a name="GenomicClinicalIndication-M114"> </a></td><td>Large Granular Lymphocyte Leukaemia</td></tr><tr><td style="white-space:nowrap">M115<a name="GenomicClinicalIndication-M115"> </a></td><td>NK Cell/Gamma-Delta T Cell Lymphoma</td></tr><tr><td style="white-space:nowrap">M116<a name="GenomicClinicalIndication-M116"> </a></td><td>Hepatosplenic T Cell Lymphoma</td></tr><tr><td style="white-space:nowrap">M117<a name="GenomicClinicalIndication-M117"> </a></td><td>Histiocytosis</td></tr><tr><td style="white-space:nowrap">M118<a name="GenomicClinicalIndication-M118"> </a></td><td>Any patient undergoing Allogeneic Haematopoietic Stem Cell transplantation</td></tr><tr><td style="white-space:nowrap">M120<a name="GenomicClinicalIndication-M120"> </a></td><td>Atypical Teratoid/Rhabdoid Tumour</td></tr><tr><td style="white-space:nowrap">M126<a name="GenomicClinicalIndication-M126"> </a></td><td>CNS High-Grade Neuroepithelial Tumour with MN1 Alteration</td></tr><tr><td style="white-space:nowrap">M130<a name="GenomicClinicalIndication-M130"> </a></td><td>Cribriform Neuroepithelial Tumour</td></tr><tr><td style="white-space:nowrap">M132<a name="GenomicClinicalIndication-M132"> </a></td><td>Desmoplastic Infantile Gangliogliomas</td></tr><tr><td style="white-space:nowrap">M133<a name="GenomicClinicalIndication-M133"> </a></td><td>Desmoplastic Medulloblastoma</td></tr><tr><td style="white-space:nowrap">M136<a name="GenomicClinicalIndication-M136"> </a></td><td>Fibrolamellar Hepatocellular Carcinoma</td></tr><tr><td style="white-space:nowrap">M137<a name="GenomicClinicalIndication-M137"> </a></td><td>Ganglioglioma</td></tr><tr><td style="white-space:nowrap">M138<a name="GenomicClinicalIndication-M138"> </a></td><td>Glial Tumours</td></tr><tr><td style="white-space:nowrap">M139<a name="GenomicClinicalIndication-M139"> </a></td><td>Glioblastoma</td></tr><tr><td style="white-space:nowrap">M145<a name="GenomicClinicalIndication-M145"> </a></td><td>Medulloblastoma</td></tr><tr><td style="white-space:nowrap">M146<a name="GenomicClinicalIndication-M146"> </a></td><td>Medulloblastoma Group 3</td></tr><tr><td style="white-space:nowrap">M147<a name="GenomicClinicalIndication-M147"> </a></td><td>Medulloblastoma Group 3/4</td></tr><tr><td style="white-space:nowrap">M148<a name="GenomicClinicalIndication-M148"> </a></td><td>Medulloblastoma TP53 WT</td></tr><tr><td style="white-space:nowrap">M150<a name="GenomicClinicalIndication-M150"> </a></td><td>Meningioma</td></tr><tr><td style="white-space:nowrap">M153<a name="GenomicClinicalIndication-M153"> </a></td><td>Nodular Brain Tumour</td></tr><tr><td style="white-space:nowrap">M155<a name="GenomicClinicalIndication-M155"> </a></td><td>Oligoastrocytoma</td></tr><tr><td style="white-space:nowrap">M156<a name="GenomicClinicalIndication-M156"> </a></td><td>Oligodendroglioma</td></tr><tr><td style="white-space:nowrap">M158<a name="GenomicClinicalIndication-M158"> </a></td><td>Pilocytic Astrocytoma</td></tr><tr><td style="white-space:nowrap">M159<a name="GenomicClinicalIndication-M159"> </a></td><td>Pituitary Blastoma</td></tr><tr><td style="white-space:nowrap">M160<a name="GenomicClinicalIndication-M160"> </a></td><td>Pleomorphic Xanthoastrocytoma</td></tr><tr><td style="white-space:nowrap">M162<a name="GenomicClinicalIndication-M162"> </a></td><td>Primitive Neuroectodermal Tumours</td></tr><tr><td style="white-space:nowrap">M168<a name="GenomicClinicalIndication-M168"> </a></td><td>Rosette-Forming Glioneuronal Tumour</td></tr><tr><td style="white-space:nowrap">M169<a name="GenomicClinicalIndication-M169"> </a></td><td>Secondary Glioblastoma</td></tr><tr><td style="white-space:nowrap">M170<a name="GenomicClinicalIndication-M170"> </a></td><td>SHH Medulloblastoma</td></tr><tr><td style="white-space:nowrap">M171<a name="GenomicClinicalIndication-M171"> </a></td><td>SHH Medulloblastoma</td></tr><tr><td style="white-space:nowrap">M172<a name="GenomicClinicalIndication-M172"> </a></td><td>SHH Medulloblastoma</td></tr><tr><td style="white-space:nowrap">M179<a name="GenomicClinicalIndication-M179"> </a></td><td>WNT Medulloblastoma</td></tr><tr><td style="white-space:nowrap">M181<a name="GenomicClinicalIndication-M181"> </a></td><td>Hairy Cell Leukaemia</td></tr><tr><td style="white-space:nowrap">M182<a name="GenomicClinicalIndication-M182"> </a></td><td>ALK Positive Anaplastic Large Cell Lymphoma</td></tr><tr><td style="white-space:nowrap">M183<a name="GenomicClinicalIndication-M183"> </a></td><td>Diffuse Midline Glioma</td></tr><tr><td style="white-space:nowrap">M184<a name="GenomicClinicalIndication-M184"> </a></td><td>Glioma</td></tr><tr><td style="white-space:nowrap">M185<a name="GenomicClinicalIndication-M185"> </a></td><td>High Grade Glioma</td></tr><tr><td style="white-space:nowrap">M186<a name="GenomicClinicalIndication-M186"> </a></td><td>Low Grade Glioma</td></tr><tr><td style="white-space:nowrap">M189<a name="GenomicClinicalIndication-M189"> </a></td><td>Brain Tumour</td></tr><tr><td style="white-space:nowrap">M190<a name="GenomicClinicalIndication-M190"> </a></td><td>Embryonal Tumour Differential</td></tr><tr><td style="white-space:nowrap">M191<a name="GenomicClinicalIndication-M191"> </a></td><td>Low Grade Intrinsic Brain Tumour Differential</td></tr><tr><td style="white-space:nowrap">M192<a name="GenomicClinicalIndication-M192"> </a></td><td>High Grade Intrinsic Brain Tumour Differential</td></tr><tr><td style="white-space:nowrap">M193<a name="GenomicClinicalIndication-M193"> </a></td><td>Unable To Grade Intrinsic Brain Tumour</td></tr><tr><td style="white-space:nowrap">M194<a name="GenomicClinicalIndication-M194"> </a></td><td>Medulloblastoma all Subtypes</td></tr><tr><td style="white-space:nowrap">M195<a name="GenomicClinicalIndication-M195"> </a></td><td>Craniopharyngioma</td></tr><tr><td style="white-space:nowrap">M213<a name="GenomicClinicalIndication-M213"> </a></td><td>Glial and Glioneuronal Tumour Differential</td></tr><tr><td style="white-space:nowrap">M224<a name="GenomicClinicalIndication-M224"> </a></td><td>MDS/MPN</td></tr><tr><td style="white-space:nowrap">M225<a name="GenomicClinicalIndication-M225"> </a></td><td>Suspected Lymphoma</td></tr><tr><td style="white-space:nowrap">M235<a name="GenomicClinicalIndication-M235"> </a></td><td>Proven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and Treatment</td></tr><tr><td style="white-space:nowrap">R94<a name="GenomicClinicalIndication-R94"> </a></td><td>Not present in 8.0</td></tr><tr><td style="white-space:nowrap">R362<a name="GenomicClinicalIndication-R362"> </a></td><td>Not present in 8.0</td></tr></table></div>
  </text>
  <url
       value="https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication"/>
  <version value="2.2.0"/>
  <name value="GenomicClinicalIndication"/>
  <title value="NHS England Genomic Clinical Indication Code"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2026-09-08"/>
  <publisher value="NHS North West Genomics"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="https://www.nwgenomics.nhs.uk/contact-us"/>
    </telecom>
  </contact>
  <description
               value="1st level Genomic Test Directory Codes - completed from the same master
spreadsheets as `GenomicTestCode` (`EnglandTestCode.fsh`); see that CodeSystem's
own Description for the legacy-versus-current distinction, which applies the
same way here."/>
  <jurisdiction>
    <coding>
      <system value="urn:iso:std:iso:3166"/>
      <code value="GB"/>
      <display value="United Kingdom of Great Britain and Northern Ireland"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <content value="fragment"/>
  <concept>
    <code value="R14"/>
    <display
             value="Acutely unwell children with a likely monogenic disorder"/>
  </concept>
  <concept>
    <code value="R15"/>
    <display
             value="Primary immunodeficiency or monogenic inflammatory bowel disease"/>
  </concept>
  <concept>
    <code value="R16"/>
    <display
             value="Severe combined immunodeficiency with adenosine deaminase deficiency"/>
  </concept>
  <concept>
    <code value="R17"/>
    <display value="Lymphoproliferative syndrome with absent SAP expression"/>
  </concept>
  <concept>
    <code value="R18"/>
    <display value="Haemophagocytic syndrome with absent XIAP expression"/>
  </concept>
  <concept>
    <code value="R19"/>
    <display
             value="Autoimmune lymphoproliferative syndrome with defective apoptosis"/>
  </concept>
  <concept>
    <code value="R20"/>
    <display value="Wiskott-Aldrich syndrome"/>
  </concept>
  <concept>
    <code value="R21"/>
    <display value="Fetal anomalies with a likely genetic cause"/>
  </concept>
  <concept>
    <code value="R22"/>
    <display value="Fetus with a likely chromosomal abnormality"/>
  </concept>
  <concept>
    <code value="R23"/>
    <display value="Apert syndrome"/>
  </concept>
  <concept>
    <code value="R24"/>
    <display value="Achondroplasia"/>
  </concept>
  <concept>
    <code value="R25"/>
    <display value="Thanatophoric dysplasia"/>
  </concept>
  <concept>
    <code value="R26"/>
    <display value="Likely common aneuploidy"/>
  </concept>
  <concept>
    <code value="R27"/>
    <display value="Paediatric disorders"/>
  </concept>
  <concept>
    <code value="R28"/>
    <display value="Congenital malformation and dysmorphism syndromes"/>
  </concept>
  <concept>
    <code value="R31"/>
    <display value="Bilateral congenital or childhood onset cataracts"/>
  </concept>
  <concept>
    <code value="R32"/>
    <display value="Retinal disorders"/>
  </concept>
  <concept>
    <code value="R33"/>
    <display value="Possible X-linked retinitis pigmentosa"/>
  </concept>
  <concept>
    <code value="R36"/>
    <display value="Structural eye disease"/>
  </concept>
  <concept>
    <code value="R38"/>
    <display value="Sporadic aniridia"/>
  </concept>
  <concept>
    <code value="R39"/>
    <display value="Albinism or congenital nystagmus"/>
  </concept>
  <concept>
    <code value="R41"/>
    <display value="Optic neuropathy"/>
  </concept>
  <concept>
    <code value="R42"/>
    <display value="Leber hereditary optic neuropathy"/>
  </concept>
  <concept>
    <code value="R43"/>
    <display value="Blepharophimosis ptosis and epicanthus inversus"/>
  </concept>
  <concept>
    <code value="R45"/>
    <display value="Stickler syndrome"/>
  </concept>
  <concept>
    <code value="R46"/>
    <display value="Congenital fibrosis of the extraocular muscles"/>
  </concept>
  <concept>
    <code value="R47"/>
    <display value="Angelman syndrome"/>
  </concept>
  <concept>
    <code value="R48"/>
    <display value="Prader-Willi syndrome"/>
  </concept>
  <concept>
    <code value="R49"/>
    <display value="Beckwith-Wiedemann syndrome"/>
  </concept>
  <concept>
    <code value="R50"/>
    <display value="Isolated hemihypertrophy or macroglossia"/>
  </concept>
  <concept>
    <code value="R52"/>
    <display value="Short stature - SHOX deficiency"/>
  </concept>
  <concept>
    <code value="R54"/>
    <display value="Hereditary ataxia with onset in adulthood"/>
  </concept>
  <concept>
    <code value="R55"/>
    <display value="Hereditary ataxia with onset in childhood"/>
  </concept>
  <concept>
    <code value="R56"/>
    <display
             value="Adult onset dystonia, chorea or related movement disorder"/>
  </concept>
  <concept>
    <code value="R57"/>
    <display
             value="Childhood onset dystonia, chorea or related movement disorder"/>
  </concept>
  <concept>
    <code value="R60"/>
    <display value="Adult onset hereditary spastic paraplegia"/>
  </concept>
  <concept>
    <code value="R61"/>
    <display value="Childhood onset hereditary spastic paraplegia"/>
  </concept>
  <concept>
    <code value="R62"/>
    <display value="Adult onset leukodystrophy"/>
  </concept>
  <concept>
    <code value="R63"/>
    <display value="Possible mitochondrial disorder - nuclear genes"/>
  </concept>
  <concept>
    <code value="R64"/>
    <display value="MELAS or MIDD"/>
  </concept>
  <concept>
    <code value="R65"/>
    <display value="Aminoglycoside exposure posing risk to hearing"/>
  </concept>
  <concept>
    <code value="R66"/>
    <display value="Paroxysmal central nervous system disorders"/>
  </concept>
  <concept>
    <code value="R67"/>
    <display value="Monogenic hearing loss"/>
  </concept>
  <concept>
    <code value="R68"/>
    <display value="Huntington disease"/>
  </concept>
  <concept>
    <code value="R69"/>
    <display value="Hypotonic infant"/>
  </concept>
  <concept>
    <code value="R70"/>
    <display value="Spinal muscular atrophy type 1 diagnostic test"/>
  </concept>
  <concept>
    <code value="R71"/>
    <display value="Spinal muscular atrophy type 1 rare variant testing"/>
  </concept>
  <concept>
    <code value="R72"/>
    <display value="Myotonic dystrophy type 1"/>
  </concept>
  <concept>
    <code value="R73"/>
    <display value="Duchenne or Becker muscular dystrophy"/>
  </concept>
  <concept>
    <code value="R74"/>
    <display value="Facioscapulohumeral muscular dystrophy"/>
  </concept>
  <concept>
    <code value="R75"/>
    <display value="Oculopharyngeal muscular dystrophy"/>
  </concept>
  <concept>
    <code value="R76"/>
    <display value="Skeletal muscle channelopathy"/>
  </concept>
  <concept>
    <code value="R77"/>
    <display value="Hereditary neuropathy - PMP22 copy number"/>
  </concept>
  <concept>
    <code value="R78"/>
    <display value="Hereditary neuropathy or pain disorder"/>
  </concept>
  <concept>
    <code value="R79"/>
    <display value="Congenital muscular dystrophy"/>
  </concept>
  <concept>
    <code value="R80"/>
    <display value="Congenital myaesthenic syndrome"/>
  </concept>
  <concept>
    <code value="R81"/>
    <display value="Congenital myopathy"/>
  </concept>
  <concept>
    <code value="R82"/>
    <display
             value="Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies"/>
  </concept>
  <concept>
    <code value="R83"/>
    <display value="Arthrogryposis"/>
  </concept>
  <concept>
    <code value="R84"/>
    <display value="Cerebellar anomalies"/>
  </concept>
  <concept>
    <code value="R85"/>
    <display value="Holoprosencephaly - NOT chromosomal"/>
  </concept>
  <concept>
    <code value="R86"/>
    <display value="Hydrocephalus"/>
  </concept>
  <concept>
    <code value="R87"/>
    <display value="Cerebral malformation"/>
  </concept>
  <concept>
    <code value="R88"/>
    <display value="Severe microcephaly"/>
  </concept>
  <concept>
    <code value="R89"/>
    <display value="Ultra-rare and atypical monogenic disorders"/>
  </concept>
  <concept>
    <code value="R90"/>
    <display value="Bleeding and platelet disorders"/>
  </concept>
  <concept>
    <code value="R91"/>
    <display value="Cytopenia - NOT Fanconi anaemia"/>
  </concept>
  <concept>
    <code value="R92"/>
    <display value="Rare anaemia"/>
  </concept>
  <concept>
    <code value="R93"/>
    <display value="Sickle cell, thalassaemia and other haemoglobinopathies"/>
  </concept>
  <concept>
    <code value="R95"/>
    <display value="Iron overload - hereditary haemochromatosis testing"/>
  </concept>
  <concept>
    <code value="R96"/>
    <display value="Iron metabolism disorders - NOT common HFE  variants"/>
  </concept>
  <concept>
    <code value="R97"/>
    <display value="Thrombophilia with a likely monogenic cause"/>
  </concept>
  <concept>
    <code value="R98"/>
    <display value="Likely inborn error of metabolism"/>
  </concept>
  <concept>
    <code value="R99"/>
    <display value="Common craniosynostosis syndromes"/>
  </concept>
  <concept>
    <code value="R100"/>
    <display
             value="Rare syndromic craniosynostosis or isolated multisuture synostosis"/>
  </concept>
  <concept>
    <code value="R101"/>
    <display value="Ehlers Danlos syndrome with a likely monogenic cause"/>
  </concept>
  <concept>
    <code value="R102"/>
    <display value="Osteogenesis imperfecta"/>
  </concept>
  <concept>
    <code value="R104"/>
    <display value="Skeletal dysplasia"/>
  </concept>
  <concept>
    <code value="R105"/>
    <display
             value="MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow up"/>
  </concept>
  <concept>
    <code value="R106"/>
    <display value="Alstrom syndrome"/>
  </concept>
  <concept>
    <code value="R107"/>
    <display value="Bardet Biedl syndrome"/>
  </concept>
  <concept>
    <code value="R109"/>
    <display value="Childhood onset leukodystrophy"/>
  </concept>
  <concept>
    <code value="R110"/>
    <display value="Segmental overgrowth disorders - Deep sequencing"/>
  </concept>
  <concept>
    <code value="R111"/>
    <display value="X-inactivation testing"/>
  </concept>
  <concept>
    <code value="R112"/>
    <display value="Factor II deficiency"/>
  </concept>
  <concept>
    <code value="R115"/>
    <display value="Factor V deficiency"/>
  </concept>
  <concept>
    <code value="R116"/>
    <display value="Factor VII deficiency"/>
  </concept>
  <concept>
    <code value="R117"/>
    <display value="Factor VIII deficiency"/>
  </concept>
  <concept>
    <code value="R118"/>
    <display value="Factor IX deficiency"/>
  </concept>
  <concept>
    <code value="R119"/>
    <display value="Factor X deficiency"/>
  </concept>
  <concept>
    <code value="R120"/>
    <display value="Factor XI deficiency"/>
  </concept>
  <concept>
    <code value="R121"/>
    <display value="von Willebrand disease"/>
  </concept>
  <concept>
    <code value="R122"/>
    <display value="Factor XIII deficiency"/>
  </concept>
  <concept>
    <code value="R123"/>
    <display value="Combined vitamin K-dependent clotting factor deficiency"/>
  </concept>
  <concept>
    <code value="R124"/>
    <display value="Combined factor V and VIII deficiency"/>
  </concept>
  <concept>
    <code value="R125"/>
    <display value="Thoracic aortic aneurysm or dissection"/>
  </concept>
  <concept>
    <code value="R127"/>
    <display value="Long QT syndrome"/>
  </concept>
  <concept>
    <code value="R128"/>
    <display value="Brugada syndrome and cardiac sodium channel disease"/>
  </concept>
  <concept>
    <code value="R129"/>
    <display value="Catecholaminergic polymorphic VT"/>
  </concept>
  <concept>
    <code value="R130"/>
    <display value="Short QT syndrome"/>
  </concept>
  <concept>
    <code value="R131"/>
    <display value="Hypertrophic cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R132"/>
    <display value="Dilated and Arrhythmogenic cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R133"/>
    <display value="Arrhythmogenic right ventricular cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R134"/>
    <display value="Familial hypercholesterolaemia"/>
  </concept>
  <concept>
    <code value="R135"/>
    <display value="Paediatric or syndromic cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R136"/>
    <display value="Primary lymphoedema"/>
  </concept>
  <concept>
    <code value="R137"/>
    <display value="Congenital heart disease - microarray"/>
  </concept>
  <concept>
    <code value="R138"/>
    <display
             value="Sudden unexplained death or survivors of a cardiac event"/>
  </concept>
  <concept>
    <code value="R139"/>
    <display value="Laterality disorders and isomerism"/>
  </concept>
  <concept>
    <code value="R140"/>
    <display value="Elastin-related phenotypes"/>
  </concept>
  <concept>
    <code value="R141"/>
    <display value="Monogenic diabetes"/>
  </concept>
  <concept>
    <code value="R142"/>
    <display value="Glucokinase-related fasting hyperglycaemia"/>
  </concept>
  <concept>
    <code value="R143"/>
    <display value="Neonatal diabetes"/>
  </concept>
  <concept>
    <code value="R144"/>
    <display value="Congenital hyperinsulinism"/>
  </concept>
  <concept>
    <code value="R145"/>
    <display value="Congenital hypothyroidism"/>
  </concept>
  <concept>
    <code value="R146"/>
    <display value="Differences in sex development"/>
  </concept>
  <concept>
    <code value="R148"/>
    <display value="Hypogonadotropic hypogonadism"/>
  </concept>
  <concept>
    <code value="R149"/>
    <display value="Severe early-onset obesity"/>
  </concept>
  <concept>
    <code value="R150"/>
    <display value="Congenital adrenal hypoplasia"/>
  </concept>
  <concept>
    <code value="R151"/>
    <display
             value="Familial hyperparathyroidism or Hypocalciuric hypercalcaemia"/>
  </concept>
  <concept>
    <code value="R153"/>
    <display value="Familial hypoparathyroidism"/>
  </concept>
  <concept>
    <code value="R154"/>
    <display value="Hypophosphataemia or rickets"/>
  </concept>
  <concept>
    <code value="R155"/>
    <display value="Autoimmune Polyendocrine Syndrome"/>
  </concept>
  <concept>
    <code value="R156"/>
    <display value="Carney complex"/>
  </concept>
  <concept>
    <code value="R157"/>
    <display
             value="IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked"/>
  </concept>
  <concept>
    <code value="R158"/>
    <display value="Severe insulin resistance and lipodystrophy syndromes"/>
  </concept>
  <concept>
    <code value="R159"/>
    <display value="Pituitary hormone deficiency"/>
  </concept>
  <concept>
    <code value="R160"/>
    <display value="Primary pigmented nodular adrenocortical disease"/>
  </concept>
  <concept>
    <code value="R162"/>
    <display value="Familial tumoral calcinosis"/>
  </concept>
  <concept>
    <code value="R163"/>
    <display value="Ectodermal dysplasia"/>
  </concept>
  <concept>
    <code value="R164"/>
    <display value="Epidermolysis bullosa and congenital skin fragility"/>
  </concept>
  <concept>
    <code value="R165"/>
    <display value="Ichthyosis and erythrokeratoderma"/>
  </concept>
  <concept>
    <code value="R166"/>
    <display value="Palmoplantar keratodermas"/>
  </concept>
  <concept>
    <code value="R167"/>
    <display
             value="Autosomal recessive primary hypertrophic osteoarthropathy"/>
  </concept>
  <concept>
    <code value="R168"/>
    <display value="Non-acute porphyrias"/>
  </concept>
  <concept>
    <code value="R169"/>
    <display value="Acute intermittent porphyria"/>
  </concept>
  <concept>
    <code value="R170"/>
    <display value="Variegate porphyria"/>
  </concept>
  <concept>
    <code value="R171"/>
    <display value="Cholestasis"/>
  </concept>
  <concept>
    <code value="R172"/>
    <display value="Wilson disease"/>
  </concept>
  <concept>
    <code value="R173"/>
    <display value="Polycystic liver disease"/>
  </concept>
  <concept>
    <code value="R175"/>
    <display value="Pancreatitis"/>
  </concept>
  <concept>
    <code value="R176"/>
    <display value="Gilbert syndrome"/>
  </concept>
  <concept>
    <code value="R180"/>
    <display value="Congenital adrenal hyperplasia diagnostic test"/>
  </concept>
  <concept>
    <code value="R181"/>
    <display value="Congenital adrenal hyperplasia carrier testing"/>
  </concept>
  <concept>
    <code value="R182"/>
    <display value="Hyperthyroidism"/>
  </concept>
  <concept>
    <code value="R183"/>
    <display value="Glucocorticoid-remediable aldosteronism (GRA)"/>
  </concept>
  <concept>
    <code value="R184"/>
    <display value="Cystic fibrosis diagnostic test"/>
  </concept>
  <concept>
    <code value="R185"/>
    <display value="Cystic fibrosis carrier testing"/>
  </concept>
  <concept>
    <code value="R186"/>
    <display value="Hereditary haemorrhagic telangiectasia"/>
  </concept>
  <concept>
    <code value="R188"/>
    <display value="Pulmonary arterial hypertension"/>
  </concept>
  <concept>
    <code value="R189"/>
    <display
             value="Respiratory ciliopathies including non-CF bronchiectasis"/>
  </concept>
  <concept>
    <code value="R190"/>
    <display value="Pneumothorax - familial"/>
  </concept>
  <concept>
    <code value="R191"/>
    <display value="Alpha-1-antitrypsin deficiency"/>
  </concept>
  <concept>
    <code value="R193"/>
    <display value="Cystic renal disease"/>
  </concept>
  <concept>
    <code value="R194"/>
    <display value="Haematuria"/>
  </concept>
  <concept>
    <code value="R195"/>
    <display value="Proteinuric renal disease"/>
  </concept>
  <concept>
    <code value="R196"/>
    <display value="CFHR5 nephropathy"/>
  </concept>
  <concept>
    <code value="R197"/>
    <display
             value="Membranoproliferative glomerulonephritis including C3 glomerulopathy"/>
  </concept>
  <concept>
    <code value="R198"/>
    <display value="Renal tubulopathies"/>
  </concept>
  <concept>
    <code value="R199"/>
    <display
             value="Congenital anomalies of the kidney and urinary tract - familial"/>
  </concept>
  <concept>
    <code value="R201"/>
    <display value="Atypical haemolytic uraemic syndrome"/>
  </concept>
  <concept>
    <code value="R202"/>
    <display value="Tubulointerstitial kidney disease"/>
  </concept>
  <concept>
    <code value="R204"/>
    <display value="Hereditary Systemic Amyloidosis"/>
  </concept>
  <concept>
    <code value="R207"/>
    <display value="Inherited ovarian cancer (without breast cancer)"/>
  </concept>
  <concept>
    <code value="R208"/>
    <display value="Inherited breast cancer and ovarian cancer"/>
  </concept>
  <concept>
    <code value="R210"/>
    <display value="Inherited MMR deficiency (Lynch syndrome)"/>
  </concept>
  <concept>
    <code value="R211"/>
    <display
             value="Inherited polyposis and early onset colorectal cancer - germline testing"/>
  </concept>
  <concept>
    <code value="R212"/>
    <display value="Peutz Jeghers Syndrome"/>
  </concept>
  <concept>
    <code value="R213"/>
    <display value="PTEN Hamartoma Tumor Syndrome"/>
  </concept>
  <concept>
    <code value="R214"/>
    <display value="Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome"/>
  </concept>
  <concept>
    <code value="R215"/>
    <display value="Hereditary diffuse gastric cancer"/>
  </concept>
  <concept>
    <code value="R216"/>
    <display value="Li Fraumeni Syndrome"/>
  </concept>
  <concept>
    <code value="R217"/>
    <display value="Endocrine neoplasia"/>
  </concept>
  <concept>
    <code value="R218"/>
    <display value="Multiple endocrine neoplasia type 2"/>
  </concept>
  <concept>
    <code value="R219"/>
    <display value="Retinoblastoma"/>
  </concept>
  <concept>
    <code value="R221"/>
    <display value="Familial tumours of the nervous system"/>
  </concept>
  <concept>
    <code value="R222"/>
    <display value="Neurofibromatosis type 1"/>
  </concept>
  <concept>
    <code value="R223"/>
    <display
             value="Inherited phaeochromocytoma and paraganglioma excluding NF1"/>
  </concept>
  <concept>
    <code value="R224"/>
    <display value="Inherited renal cancer"/>
  </concept>
  <concept>
    <code value="R225"/>
    <display value="Von Hippel Lindau syndrome"/>
  </concept>
  <concept>
    <code value="R226"/>
    <display value="Inherited parathyroid cancer"/>
  </concept>
  <concept>
    <code value="R227"/>
    <display
             value="Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome"/>
  </concept>
  <concept>
    <code value="R228"/>
    <display value="Tuberous sclerosis"/>
  </concept>
  <concept>
    <code value="R229"/>
    <display
             value="Confirmed Fanconi anaemia or Bloom syndrome - variant testing"/>
  </concept>
  <concept>
    <code value="R230"/>
    <display value="Multiple monogenic benign skin tumours"/>
  </concept>
  <concept>
    <code value="R231"/>
    <display value="Neuronal ceroid lipofuscinosis"/>
  </concept>
  <concept>
    <code value="R232"/>
    <display
             value="Haemophagocytic syndrome with absent perforin expression"/>
  </concept>
  <concept>
    <code value="R233"/>
    <display value="Agammaglobulinaemia with absent BTK expression"/>
  </concept>
  <concept>
    <code value="R234"/>
    <display value="Severe combined immunodeficiency with PNP deficiency"/>
  </concept>
  <concept>
    <code value="R235"/>
    <display value="SCID with features of gamma chain deficiency"/>
  </concept>
  <concept>
    <code value="R236"/>
    <display value="Pigmentary skin disorders"/>
  </concept>
  <concept>
    <code value="R237"/>
    <display value="Cutaneous photosensitivity with a likely genetic cause"/>
  </concept>
  <concept>
    <code value="R239"/>
    <display value="Incontinentia pigmenti"/>
  </concept>
  <concept>
    <code value="R240"/>
    <display value="Diagnostic testing for known variant(s)"/>
  </concept>
  <concept>
    <code value="R242"/>
    <display value="Predictive testing for known familial variant(s)"/>
  </concept>
  <concept>
    <code value="R244"/>
    <display value="Carrier testing for known familial variant(s)"/>
  </concept>
  <concept>
    <code value="R246"/>
    <display
             value="Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders"/>
  </concept>
  <concept>
    <code value="R249"/>
    <display
             value="NIPD using paternal exclusion testing for very rare conditions where familial variant is known"/>
  </concept>
  <concept>
    <code value="R250"/>
    <display
             value="NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing"/>
  </concept>
  <concept>
    <code value="R251"/>
    <display value="Non-invasive prenatal sexing"/>
  </concept>
  <concept>
    <code value="R252"/>
    <display
             value="SMA carrier testing at population risk for partners of known carriers"/>
  </concept>
  <concept>
    <code value="R253"/>
    <display value="Cystic fibrosis newborn screening follow-up"/>
  </concept>
  <concept>
    <code value="R254"/>
    <display value="Familial melanoma"/>
  </concept>
  <concept>
    <code value="R255"/>
    <display value="Epidermodysplasia verruciformis"/>
  </concept>
  <concept>
    <code value="R256"/>
    <display value="Nephrocalcinosis or nephrolithiasis"/>
  </concept>
  <concept>
    <code value="R257"/>
    <display value="Unexplained young onset end-stage renal disease"/>
  </concept>
  <concept>
    <code value="R258"/>
    <display value="Cytopenia - Fanconi breakage testing indicated"/>
  </concept>
  <concept>
    <code value="R259"/>
    <display value="Nijmegen breakage syndrome"/>
  </concept>
  <concept>
    <code value="R260"/>
    <display
             value="Fanconi anaemia or Bloom syndrome - chromosome breakage testing"/>
  </concept>
  <concept>
    <code value="R262"/>
    <display value="Corneal dystrophy"/>
  </concept>
  <concept>
    <code value="R263"/>
    <display value="Confirmation of uniparental disomy"/>
  </concept>
  <concept>
    <code value="R264"/>
    <display value="Identity testing"/>
  </concept>
  <concept>
    <code value="R265"/>
    <display value="Chromosomal mosaicism - karyotype"/>
  </concept>
  <concept>
    <code value="R268"/>
    <display value="Kagami-Ogata syndrome - paternal uniparental disomy 14"/>
  </concept>
  <concept>
    <code value="R270"/>
    <display value="Smith-Lemli-Opitz syndrome"/>
  </concept>
  <concept>
    <code value="R271"/>
    <display value="Neuronal ceroid lipofuscinosis type 2"/>
  </concept>
  <concept>
    <code value="R272"/>
    <display value="Gaucher disease"/>
  </concept>
  <concept>
    <code value="R273"/>
    <display value="Glycogen storage disease V"/>
  </concept>
  <concept>
    <code value="R274"/>
    <display value="Glycogen storage disease"/>
  </concept>
  <concept>
    <code value="R275"/>
    <display value="Glutaric acidaemia I newborn screening follow up"/>
  </concept>
  <concept>
    <code value="R276"/>
    <display value="Lysosomal storage disorder"/>
  </concept>
  <concept>
    <code value="R277"/>
    <display value="Mucopolysaccharidosis type IH/S"/>
  </concept>
  <concept>
    <code value="R278"/>
    <display value="Mucopolysaccharidosis type II"/>
  </concept>
  <concept>
    <code value="R279"/>
    <display value="Isovaleric acidaemia newborn screening follow up"/>
  </concept>
  <concept>
    <code value="R280"/>
    <display value="Krabbe disease – GALC deficiency"/>
  </concept>
  <concept>
    <code value="R281"/>
    <display value="Krabbe disease - Saposin A deficiency"/>
  </concept>
  <concept>
    <code value="R282"/>
    <display value="Niemann-Pick disease type A or B"/>
  </concept>
  <concept>
    <code value="R283"/>
    <display value="Phenylketonuria"/>
  </concept>
  <concept>
    <code value="R285"/>
    <display value="Sandhoff disease"/>
  </concept>
  <concept>
    <code value="R286"/>
    <display value="Tay-Sachs disease"/>
  </concept>
  <concept>
    <code value="R287"/>
    <display value="Mucopolysaccharidosis type IVA"/>
  </concept>
  <concept>
    <code value="R288"/>
    <display value="GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB"/>
  </concept>
  <concept>
    <code value="R289"/>
    <display value="Mucolipidosis II and III Alpha/Beta"/>
  </concept>
  <concept>
    <code value="R290"/>
    <display value="Mucopolysaccharidosis type VI"/>
  </concept>
  <concept>
    <code value="R291"/>
    <display value="Mucopolysaccharidosis type IIIA"/>
  </concept>
  <concept>
    <code value="R292"/>
    <display value="Mucopolysaccharidosis type IIIB"/>
  </concept>
  <concept>
    <code value="R293"/>
    <display
             value="Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis"/>
  </concept>
  <concept>
    <code value="R294"/>
    <display value="Ataxia telangiectasia - DNA repair testing"/>
  </concept>
  <concept>
    <code value="R295"/>
    <display value="Ataxia telangiectasia - variant testing"/>
  </concept>
  <concept>
    <code value="R296"/>
    <display value="RNA analysis of variants"/>
  </concept>
  <concept>
    <code value="R298"/>
    <display
             value="Possible structural or mosaic chromosomal abnormality - FISH"/>
  </concept>
  <concept>
    <code value="R299"/>
    <display
             value="Possible mitochondrial disorder - mitochondrial DNA rearrangement testing"/>
  </concept>
  <concept>
    <code value="R300"/>
    <display
             value="Possible mitochondrial disorder - whole mitochondrial genome sequencing"/>
  </concept>
  <concept>
    <code value="R301"/>
    <display
             value="Possible mitochondrial disorder - mitochondrial DNA depletion testing"/>
  </concept>
  <concept>
    <code value="R304"/>
    <display value="NIPD for cystic fibrosis - haplotype testing"/>
  </concept>
  <concept>
    <code value="R305"/>
    <display value="NIPD for cystic fibrosis - variant testing"/>
  </concept>
  <concept>
    <code value="R306"/>
    <display value="NIPD for Apert syndrome - variant testing"/>
  </concept>
  <concept>
    <code value="R307"/>
    <display
             value="NIPD for Crouzon syndrome with acanthosis nigricans - variant testing"/>
  </concept>
  <concept>
    <code value="R308"/>
    <display
             value="NIPD for FGFR2-related craniosynostosis syndromes - variant testing"/>
  </concept>
  <concept>
    <code value="R309"/>
    <display
             value="NIPD for FGFR3-related skeletal dysplasias - variant testing"/>
  </concept>
  <concept>
    <code value="R310"/>
    <display
             value="NIPD for Duchenne and Becker muscular dystrophy - haplotype testing"/>
  </concept>
  <concept>
    <code value="R311"/>
    <display value="NIPD for spinal muscular atrophy - variant testing"/>
  </concept>
  <concept>
    <code value="R312"/>
    <display
             value="Parental sequencing for lethal autosomal recessive disorders"/>
  </concept>
  <concept>
    <code value="R313"/>
    <display value="Neutropaenia consistent with ELANE variants"/>
  </concept>
  <concept>
    <code value="R314"/>
    <display value="Ambiguous genitalia"/>
  </concept>
  <concept>
    <code value="R315"/>
    <display value="POLG-related disorder"/>
  </concept>
  <concept>
    <code value="R316"/>
    <display value="Pyruvate dehydrogenase (PDH) deficiency"/>
  </concept>
  <concept>
    <code value="R317"/>
    <display
             value="Mitochondrial liver disease, including transient infantile liver failure"/>
  </concept>
  <concept>
    <code value="R318"/>
    <display
             value="Recurrent miscarriage with products of conception available for testing"/>
  </concept>
  <concept>
    <code value="R319"/>
    <display value="Calcium-sensing receptor phenotypes"/>
  </concept>
  <concept>
    <code value="R320"/>
    <display value="Invasive prenatal diagnosis requiring fetal sexing"/>
  </concept>
  <concept>
    <code value="R321"/>
    <display value="Maternal cell contamination testing"/>
  </concept>
  <concept>
    <code value="R322"/>
    <display value="Skin fibroblasts to be cultured and stored"/>
  </concept>
  <concept>
    <code value="R323"/>
    <display value="Sitosterolaemia"/>
  </concept>
  <concept>
    <code value="R324"/>
    <display value="Familial Chylomicronaemia Syndrome (FCS)"/>
  </concept>
  <concept>
    <code value="R325"/>
    <display value="Lysosomal acid lipase deficiency"/>
  </concept>
  <concept>
    <code value="R326"/>
    <display value="Vascular skin disorders"/>
  </concept>
  <concept>
    <code value="R327"/>
    <display value="Mosaic skin disorders - deep sequencing"/>
  </concept>
  <concept>
    <code value="R328"/>
    <display value="Progressive cardiac conduction disease"/>
  </concept>
  <concept>
    <code value="R329"/>
    <display value="Familial dysalbuminaemic hyperthyroxinaemia"/>
  </concept>
  <concept>
    <code value="R330"/>
    <display
             value="Alveolar capillary dysplasia with misalignment of pulmonary veins"/>
  </concept>
  <concept>
    <code value="R331"/>
    <display value="Intestinal failure or congenital diarrhoea"/>
  </concept>
  <concept>
    <code value="R332"/>
    <display value="Rare genetic inflammatory skin disorders"/>
  </concept>
  <concept>
    <code value="R333"/>
    <display value="Central congenital hypoventilation"/>
  </concept>
  <concept>
    <code value="R334"/>
    <display value="Cystinosis"/>
  </concept>
  <concept>
    <code value="R335"/>
    <display value="Fabry disease"/>
  </concept>
  <concept>
    <code value="R336"/>
    <display value="Cerebral vascular malformations"/>
  </concept>
  <concept>
    <code value="R337"/>
    <display value="CADASIL"/>
  </concept>
  <concept>
    <code value="R338"/>
    <display value="Monitoring for G(M)CSF escape variants"/>
  </concept>
  <concept>
    <code value="R340"/>
    <display value="Amelogenesis imperfecta"/>
  </concept>
  <concept>
    <code value="R341"/>
    <display value="Hereditary angioedema types I and II"/>
  </concept>
  <concept>
    <code value="R343"/>
    <display value="Chromosomal mosaicism - microarray"/>
  </concept>
  <concept>
    <code value="R344"/>
    <display value="Primary hyperaldosteronism - KCNJ5"/>
  </concept>
  <concept>
    <code value="R345"/>
    <display
             value="Facioscapulohumeral muscular dystrophy - extended testing"/>
  </concept>
  <concept>
    <code value="R346"/>
    <display value="DNA to be stored"/>
  </concept>
  <concept>
    <code value="R347"/>
    <display
             value="Inherited predisposition to acute myeloid leukaemia (AML)"/>
  </concept>
  <concept>
    <code value="R350"/>
    <display value="MERRF syndrome"/>
  </concept>
  <concept>
    <code value="R351"/>
    <display value="NARP syndrome or maternally inherited Leigh syndrome"/>
  </concept>
  <concept>
    <code value="R352"/>
    <display value="Mitochondrial DNA maintenance disorder"/>
  </concept>
  <concept>
    <code value="R353"/>
    <display value="Mitochondrial disorder with complex I deficiency"/>
  </concept>
  <concept>
    <code value="R354"/>
    <display value="Mitochondrial disorder with complex II deficiency"/>
  </concept>
  <concept>
    <code value="R355"/>
    <display value="Mitochondrial disorder with complex III deficiency"/>
  </concept>
  <concept>
    <code value="R356"/>
    <display value="Mitochondrial disorder with complex IV deficiency"/>
  </concept>
  <concept>
    <code value="R357"/>
    <display value="Mitochondrial disorder with complex V deficiency"/>
  </concept>
  <concept>
    <code value="R361"/>
    <display
             value="Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"/>
  </concept>
  <concept>
    <code value="R363"/>
    <display value="Inherited predisposition to GIST"/>
  </concept>
  <concept>
    <code value="R364"/>
    <display value="DICER1-related cancer predisposition"/>
  </concept>
  <concept>
    <code value="R365"/>
    <display value="Fumarate hydratase-related tumour syndromes"/>
  </concept>
  <concept>
    <code value="R366"/>
    <display
             value="Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)"/>
  </concept>
  <concept>
    <code value="R367"/>
    <display value="Inherited pancreatic cancer"/>
  </concept>
  <concept>
    <code value="R368"/>
    <display value="Hereditary angioedema type III"/>
  </concept>
  <concept>
    <code value="R370"/>
    <display value="Validation of unaccredited findings"/>
  </concept>
  <concept>
    <code value="R371"/>
    <display value="Malignant hyperthermia"/>
  </concept>
  <concept>
    <code value="R372"/>
    <display
             value="Newborn screening for sickle cell disease in a transfused baby"/>
  </concept>
  <concept>
    <code value="R373"/>
    <display value="RNA to be stored"/>
  </concept>
  <concept>
    <code value="R374"/>
    <display value="Other sample to be stored"/>
  </concept>
  <concept>
    <code value="R375"/>
    <display value="Family follow-up testing to aid variant interpretation"/>
  </concept>
  <concept>
    <code value="R376"/>
    <display value="Segmental or atypical neurofibromatosis type 1 testing"/>
  </concept>
  <concept>
    <code value="R380"/>
    <display value="Niemann Pick disease type C"/>
  </concept>
  <concept>
    <code value="R381"/>
    <display value="Other rare neuromuscular disorders"/>
  </concept>
  <concept>
    <code value="R382"/>
    <display value="Hypochondroplasia"/>
  </concept>
  <concept>
    <code value="R383"/>
    <display value="Linkage testing for Huntington disease"/>
  </concept>
  <concept>
    <code value="R384"/>
    <display value="Generalised arterial calcification in infancy"/>
  </concept>
  <concept>
    <code value="R387"/>
    <display value="Reanalysis of existing data"/>
  </concept>
  <concept>
    <code value="R389"/>
    <display value="NIPD - pre-pregnancy test work-up"/>
  </concept>
  <concept>
    <code value="R390"/>
    <display value="Multiple exostoses"/>
  </concept>
  <concept>
    <code value="R391"/>
    <display value="Barth syndrome"/>
  </concept>
  <concept>
    <code value="R394"/>
    <display value="Mitochondrial neurogastrointestinal encephalopathy"/>
  </concept>
  <concept>
    <code value="R395"/>
    <display value="Thiamine metabolism dysfunction syndrome 2"/>
  </concept>
  <concept>
    <code value="R396"/>
    <display value="Mitochondrial Complex V deficiency, TMEM70 type"/>
  </concept>
  <concept>
    <code value="R397"/>
    <display value="Maternally inherited cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R401"/>
    <display value="Common aneuploidy testing - prenatal"/>
  </concept>
  <concept>
    <code value="R402"/>
    <display value="Premature ovarian insufficiency"/>
  </concept>
  <concept>
    <code value="R403"/>
    <display
             value="MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up"/>
  </concept>
  <concept>
    <code value="R404"/>
    <display
             value="Testing of unaffected individuals for inherited cancer predisposition syndromes"/>
  </concept>
  <concept>
    <code value="R405"/>
    <display value="Hereditary Erythrocytosis"/>
  </concept>
  <concept>
    <code value="R406"/>
    <display value="Thrombocythaemia"/>
  </concept>
  <concept>
    <code value="R409"/>
    <display
             value="Linkage testing for other recognisable Mendelian disorders"/>
  </concept>
  <concept>
    <code value="R410"/>
    <display value="Myotonic dystrophy type 2 (DM2)"/>
  </concept>
  <concept>
    <code value="R411"/>
    <display value="Y chromosome microdeletion"/>
  </concept>
  <concept>
    <code value="R412"/>
    <display
             value="Fetal anomalies with a likely genetic cause - non urgent"/>
  </concept>
  <concept>
    <code value="R413"/>
    <display value="Autoinflammatory Disorders"/>
  </concept>
  <concept>
    <code value="R414"/>
    <display value="APC associated Polyposis"/>
  </concept>
  <concept>
    <code value="R416"/>
    <display
             value="Syndromic and non syndromic craniosynostosis involving midline sutures"/>
  </concept>
  <concept>
    <code value="R417"/>
    <display value="Multi Locus Imprinting Disorder (MLID)"/>
  </concept>
  <concept>
    <code value="R419"/>
    <display value="Acute Rhabdomyolysis"/>
  </concept>
  <concept>
    <code value="R420"/>
    <display value="Pseudoxanthoma elasticum"/>
  </concept>
  <concept>
    <code value="R421"/>
    <display value="Pulmonary Fibrosis, Familial"/>
  </concept>
  <concept>
    <code value="R422"/>
    <display value="BAP1 associated tumour predisposition syndrome"/>
  </concept>
  <concept>
    <code value="R423"/>
    <display value="NIPD for Retinoblastoma - haplotype testing"/>
  </concept>
  <concept>
    <code value="R424"/>
    <display value="Subcutaneous panniculitis T-cell lymphoma (SPTCL)"/>
  </concept>
  <concept>
    <code value="R426"/>
    <display value="Pulmonary alveolar microlithiasis"/>
  </concept>
  <concept>
    <code value="R428"/>
    <display
             value="Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)"/>
  </concept>
  <concept>
    <code value="R430"/>
    <display value="Inherited prostate cancer"/>
  </concept>
  <concept>
    <code value="R431"/>
    <display
             value="Genome-wide DNA Methylation Profiling to Aid Variant Interpretation"/>
  </concept>
  <concept>
    <code value="R433"/>
    <display value="Monogenic diabetes, subtype glucokinase - NIPT"/>
  </concept>
  <concept>
    <code value="R436"/>
    <display value="Hereditary alpha tryptasaemia"/>
  </concept>
  <concept>
    <code value="R438"/>
    <display value="Paediatric pseudo-obstruction syndrome"/>
  </concept>
  <concept>
    <code value="R440"/>
    <display value="Hereditary isolated diabetes insipidus"/>
  </concept>
  <concept>
    <code value="R441"/>
    <display
             value="Unexplained death in infancy and sudden unexplained death in childhood"/>
  </concept>
  <concept>
    <code value="R442"/>
    <display value="Variant re-interpretation"/>
  </concept>
  <concept>
    <code value="R443"/>
    <display value="Confirmation test"/>
  </concept>
  <concept>
    <code value="R444"/>
    <display value="NICE approved PARP inhibitor treatment"/>
  </concept>
  <concept>
    <code value="R445"/>
    <display
             value="T21, T18 and T13 aneuploidy testing - NIPT (previous history)"/>
  </concept>
  <concept>
    <code value="R446"/>
    <display value="APOL1 kidney donor testing"/>
  </concept>
  <concept>
    <code value="R447"/>
    <display value="Validation of WGS Diagnostic discovery"/>
  </concept>
  <concept>
    <code value="R448"/>
    <display value="Prenatal testing"/>
  </concept>
  <concept>
    <code value="R449"/>
    <display value="Diagnostic testing for Glutaric acidaemia I"/>
  </concept>
  <concept>
    <code value="R450"/>
    <display value="Diagnostic testing for Isovaleric acidaemia"/>
  </concept>
  <concept>
    <code value="R451"/>
    <display
             value="Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing"/>
  </concept>
  <concept>
    <code value="R452"/>
    <display value="Silver russell syndrome and Temple Syndrome"/>
  </concept>
  <concept>
    <code value="R453"/>
    <display value="Monogenic short stature"/>
  </concept>
  <concept>
    <code value="R454"/>
    <display
             value="Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R456"/>
    <display value="Embryonal tumour of possible germline origin"/>
  </concept>
  <concept>
    <code value="R457"/>
    <display value="Sarcoma of possible germline origin"/>
  </concept>
  <concept>
    <code value="R458"/>
    <display value="Young onset or familial dementia"/>
  </concept>
  <concept>
    <code value="R459"/>
    <display value="Young onset or complex Parkinson disease"/>
  </concept>
  <concept>
    <code value="R460"/>
    <display value="Amyotrophic lateral sclerosis"/>
  </concept>
  <concept>
    <code value="R461"/>
    <display value="Cerebral amyloid angiopathy"/>
  </concept>
  <concept>
    <code value="R462"/>
    <display value="Childhood interstitial lung disease"/>
  </concept>
  <concept>
    <code value="R463"/>
    <display
             value="Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis"/>
  </concept>
  <concept>
    <code value="R464"/>
    <display
             value="Recurrent miscarriage where products of conception are not available for testing - parental karyotype"/>
  </concept>
  <concept>
    <code value="R465"/>
    <display
             value="Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis"/>
  </concept>
  <concept>
    <code value="R466"/>
    <display value="Unexplained infertility - karyotype"/>
  </concept>
  <concept>
    <code value="R467"/>
    <display value="Gamete donors - karyotype"/>
  </concept>
  <concept>
    <code value="R468"/>
    <display
             value="Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis"/>
  </concept>
  <concept>
    <code value="R470"/>
    <display
             value="T21, T18, and T13 aneuploidy testing - NIPT NHS Fetal Anomaly Screening Programme (FASP)"/>
  </concept>
  <concept>
    <code value="R471"/>
    <display
             value="Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing"/>
  </concept>
  <concept>
    <code value="M1"/>
    <display value="Colorectal Carcinoma"/>
  </concept>
  <concept>
    <code value="M2"/>
    <display value="Ovarian Carcinoma"/>
  </concept>
  <concept>
    <code value="M3"/>
    <display value="Breast Cancer"/>
  </concept>
  <concept>
    <code value="M4"/>
    <display value="Non-Small Cell Lung Cancer"/>
  </concept>
  <concept>
    <code value="M5"/>
    <display value="Mesothelioma"/>
  </concept>
  <concept>
    <code value="M6"/>
    <display value="Mucoepidermoid Carcinoma"/>
  </concept>
  <concept>
    <code value="M7"/>
    <display value="Melanoma - Adult"/>
  </concept>
  <concept>
    <code value="M8"/>
    <display value="Gastrointestinal Stromal Tumour"/>
  </concept>
  <concept>
    <code value="M9"/>
    <display value="Thyroid Papillary Carcinoma - Adult"/>
  </concept>
  <concept>
    <code value="M10"/>
    <display value="Thyroid Follicular Carcinoma"/>
  </concept>
  <concept>
    <code value="M11"/>
    <display value="Poorly Differentiated Anaplastic Thyroid Carcinoma"/>
  </concept>
  <concept>
    <code value="M12"/>
    <display value="Thyroid Medullary Carcinoma"/>
  </concept>
  <concept>
    <code value="M13"/>
    <display value="Phaeochromocytoma"/>
  </concept>
  <concept>
    <code value="M14"/>
    <display value="Adrenal Cortical Carcinoma"/>
  </concept>
  <concept>
    <code value="M15"/>
    <display value="Head and Neck Squamous Cell Carcinoma"/>
  </concept>
  <concept>
    <code value="M16"/>
    <display value="Adenoid Cystic Carcinoma"/>
  </concept>
  <concept>
    <code value="M17"/>
    <display value="Secretory Carcinoma (Salivary Gland)"/>
  </concept>
  <concept>
    <code value="M18"/>
    <display value="Renal Cell Carcinoma - Adult"/>
  </concept>
  <concept>
    <code value="M42"/>
    <display value="Alveolar Rhabdomyosarcoma"/>
  </concept>
  <concept>
    <code value="M43"/>
    <display value="Alveolar Soft Part Sarcoma"/>
  </concept>
  <concept>
    <code value="M44"/>
    <display value="Aneurysmal Bone Cyst"/>
  </concept>
  <concept>
    <code value="M45"/>
    <display value="Angiomatoid Fibrous Histiocytoma"/>
  </concept>
  <concept>
    <code value="M46"/>
    <display value="Chondrosarcoma Conventional Central"/>
  </concept>
  <concept>
    <code value="M47"/>
    <display value="Chondroblastoma"/>
  </concept>
  <concept>
    <code value="M48"/>
    <display value="Clear Cell Sarcoma of Soft Tissue"/>
  </concept>
  <concept>
    <code value="M49"/>
    <display value="CNS Ewing Sarcoma Family Tumour With CIC Alteration"/>
  </concept>
  <concept>
    <code value="M50"/>
    <display value="Dermatofibrosarcoma Protuberans"/>
  </concept>
  <concept>
    <code value="M51"/>
    <display value="Desmoid-Type Fibromatosis"/>
  </concept>
  <concept>
    <code value="M52"/>
    <display value="Desmoplastic Small Round Cell Tumour"/>
  </concept>
  <concept>
    <code value="M53"/>
    <display value="Endometrial Stromal Sarcoma"/>
  </concept>
  <concept>
    <code value="M54"/>
    <display value="Epithelioid Haemangioendothelioma"/>
  </concept>
  <concept>
    <code value="M55"/>
    <display value="Ewing Like Sarcoma/PNET"/>
  </concept>
  <concept>
    <code value="M56"/>
    <display value="Ewing Sarcoma of Bone"/>
  </concept>
  <concept>
    <code value="M57"/>
    <display value="Ewing-Like Soft-Tissue Sarcoma"/>
  </concept>
  <concept>
    <code value="M58"/>
    <display value="Extraskeletal Myxoid Chondrosarcoma"/>
  </concept>
  <concept>
    <code value="M59"/>
    <display value="Fibrous Dysplasia/Myxomas (Mazabraud Syndrome)"/>
  </concept>
  <concept>
    <code value="M60"/>
    <display value="Giant Cell Tumour of Bone"/>
  </concept>
  <concept>
    <code value="M61"/>
    <display value="High-Grade Neuroepithelial Tumour-Bcor Group"/>
  </concept>
  <concept>
    <code value="M62"/>
    <display value="Infantile Fibrosarcoma"/>
  </concept>
  <concept>
    <code value="M63"/>
    <display value="Inflammatory Myofibroblastic Tumour"/>
  </concept>
  <concept>
    <code value="M64"/>
    <display value="Low Grade Fibromyxoid Sarcoma"/>
  </concept>
  <concept>
    <code value="M65"/>
    <display value="Mesenchymal Chondrosarcoma"/>
  </concept>
  <concept>
    <code value="M66"/>
    <display value="Myoepithelial Tumours of Soft Tissue"/>
  </concept>
  <concept>
    <code value="M67"/>
    <display value="Myxoid/Round Cell Liposarcoma"/>
  </concept>
  <concept>
    <code value="M68"/>
    <display value="Myxoinflammatory Fibroblastic Sarcoma"/>
  </concept>
  <concept>
    <code value="M69"/>
    <display value="Nodular Fasciitis"/>
  </concept>
  <concept>
    <code value="M70"/>
    <display value="Osteosarcoma"/>
  </concept>
  <concept>
    <code value="M71"/>
    <display value="Phosphaturic Mesenchymal Tumour"/>
  </concept>
  <concept>
    <code value="M72"/>
    <display value="Primitive Mesenchymal Myxoid Tumour of Infancy"/>
  </concept>
  <concept>
    <code value="M73"/>
    <display value="Pseudomyogenic Haemangioendothelioma"/>
  </concept>
  <concept>
    <code value="M74"/>
    <display value="Radiation Induced Angiosarcoma"/>
  </concept>
  <concept>
    <code value="M75"/>
    <display value="Round Cell Sarcoma Nos"/>
  </concept>
  <concept>
    <code value="M76"/>
    <display value="Sclerosing Epithelioid Fibrosarcoma"/>
  </concept>
  <concept>
    <code value="M77"/>
    <display value="Synovial Sarcoma"/>
  </concept>
  <concept>
    <code value="M78"/>
    <display value="Undifferentiated Round Cell Sarcoma of Infancy"/>
  </concept>
  <concept>
    <code value="M79"/>
    <display value="Well Differentiated/Dedifferentiated Liposarcoma"/>
  </concept>
  <concept>
    <code value="M119"/>
    <display value="Paediatric Tumours"/>
  </concept>
  <concept>
    <code value="M124"/>
    <display value="Clear Cell Kidney Sarcoma - Paediatric"/>
  </concept>
  <concept>
    <code value="M127"/>
    <display value="Congenital Mesoblastic Nephroma - Paediatric"/>
  </concept>
  <concept>
    <code value="M131"/>
    <display value="Cystic Nephroma - Paediatric"/>
  </concept>
  <concept>
    <code value="M143"/>
    <display value="Lung - Paediatric"/>
  </concept>
  <concept>
    <code value="M149"/>
    <display value="Melanotic Tumours - Paediatric"/>
  </concept>
  <concept>
    <code value="M151"/>
    <display value="Midline Carcinoma - Paediatric"/>
  </concept>
  <concept>
    <code value="M152"/>
    <display value="Neuroblastoma - Paediatric"/>
  </concept>
  <concept>
    <code value="M157"/>
    <display value="Thyroid Papillary Carcinoma - Paediatric"/>
  </concept>
  <concept>
    <code value="M161"/>
    <display value="Pleuropulmonary Blastoma - Paediatric"/>
  </concept>
  <concept>
    <code value="M165"/>
    <display value="Renal Tumours - Paediatric"/>
  </concept>
  <concept>
    <code value="M166"/>
    <display value="Retinoblastoma - Paediatric"/>
  </concept>
  <concept>
    <code value="M167"/>
    <display value="Rhabdoid Tumours - Paediatric"/>
  </concept>
  <concept>
    <code value="M173"/>
    <display
             value="t(6;11) Translocation-Associated Renal Cell Carcinoma - Paediatric"/>
  </concept>
  <concept>
    <code value="M174"/>
    <display value="Testicular - Paediatric"/>
  </concept>
  <concept>
    <code value="M178"/>
    <display value="Wilms Tumours - Paediatric"/>
  </concept>
  <concept>
    <code value="M180"/>
    <display
             value="Xp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric"/>
  </concept>
  <concept>
    <code value="M187"/>
    <display value="Uveal melanoma"/>
  </concept>
  <concept>
    <code value="M196"/>
    <display value="Bone Forming Soft Tissue Tumour Differential"/>
  </concept>
  <concept>
    <code value="M197"/>
    <display value="Round Cell Sarcoma of Soft Tissue Differential"/>
  </concept>
  <concept>
    <code value="M198"/>
    <display value="Vascular Soft Tissue Tumour Differential"/>
  </concept>
  <concept>
    <code value="M199"/>
    <display value="Spindle Cell Soft Tissue Tumour Differential"/>
  </concept>
  <concept>
    <code value="M200"/>
    <display value="Myxoid Soft Tissue Tumour Differential"/>
  </concept>
  <concept>
    <code value="M201"/>
    <display value="Adipocytic Soft Tissue Tumour Differential"/>
  </concept>
  <concept>
    <code value="M202"/>
    <display value="Epithelioid Soft Tissue Tumour Differential"/>
  </concept>
  <concept>
    <code value="M203"/>
    <display value="Uterine Sarcomas (Inc Endometrial)"/>
  </concept>
  <concept>
    <code value="M204"/>
    <display value="Undifferentiated tumour"/>
  </concept>
  <concept>
    <code value="M205"/>
    <display value="Cartilage Forming Bone Tumour Differential"/>
  </concept>
  <concept>
    <code value="M206"/>
    <display value="Bone Forming Bone Tumour Differential"/>
  </concept>
  <concept>
    <code value="M207"/>
    <display value="Osteoclast-Rich Bone Tumour Differential"/>
  </concept>
  <concept>
    <code value="M208"/>
    <display value="Round Cell Sarcoma of Bone Differential"/>
  </concept>
  <concept>
    <code value="M209"/>
    <display value="Vascular Tumour of Bone Differential"/>
  </concept>
  <concept>
    <code value="M210"/>
    <display value="Spindle Cell Tumour of Bone Differential"/>
  </concept>
  <concept>
    <code value="M211"/>
    <display value="Fibro-Osseous Tumour of Bone Differential"/>
  </concept>
  <concept>
    <code value="M212"/>
    <display value="Renal Tumour Differential - Paediatric"/>
  </concept>
  <concept>
    <code value="M215"/>
    <display value="Endometrial Cancer"/>
  </concept>
  <concept>
    <code value="M217"/>
    <display value="Urothelial Carcinoma"/>
  </concept>
  <concept>
    <code value="M218"/>
    <display value="Prostate Cancer"/>
  </concept>
  <concept>
    <code value="M219"/>
    <display value="Pancreatic Cancer"/>
  </concept>
  <concept>
    <code value="M220"/>
    <display value="Cholangiocarcinoma"/>
  </concept>
  <concept>
    <code value="M221"/>
    <display value="Spitzoid tumour"/>
  </concept>
  <concept>
    <code value="M222"/>
    <display value="Hepatocellular carcinoma"/>
  </concept>
  <concept>
    <code value="M226"/>
    <display value="Carcinoma of Unknown Primary"/>
  </concept>
  <concept>
    <code value="M227"/>
    <display
             value="Solid tumour other (i.e. specific histology not listed elsewhere in the test directory)"/>
  </concept>
  <concept>
    <code value="M231"/>
    <display value="Small cell lung cancer"/>
  </concept>
  <concept>
    <code value="M232"/>
    <display
             value="Solid Tumour Exhausted all Standards of Care Testing and Treatment- Adult"/>
  </concept>
  <concept>
    <code value="M233"/>
    <display value="High Grade Ovarian Carcinoma"/>
  </concept>
  <concept>
    <code value="M234"/>
    <display value="Triple Negative Breast Cancer"/>
  </concept>
  <concept>
    <code value="M236"/>
    <display value="Oesophageal Cancer"/>
  </concept>
  <concept>
    <code value="M237"/>
    <display value="Gastric Cancer"/>
  </concept>
  <concept>
    <code value="M238"/>
    <display value="Small Bowel Cancer"/>
  </concept>
  <concept>
    <code value="M239"/>
    <display value="Thyroid Hurtle Cell Carcinoma"/>
  </concept>
  <concept>
    <code value="M240"/>
    <display
             value="Non-invasive follicular thyroid neoplasm with papillary like nuclei"/>
  </concept>
  <concept>
    <code value="M241"/>
    <display value="Conjunctival melanoma"/>
  </concept>
  <concept>
    <code value="M242"/>
    <display
             value="Any patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected)"/>
  </concept>
  <concept>
    <code value="M243"/>
    <display value="Thymic Carcinoma"/>
  </concept>
  <concept>
    <code value="M244"/>
    <display value="In all tumours eligible for NTRK1/2/3 testing"/>
  </concept>
  <concept>
    <code value="M245"/>
    <display value="Ovarian sex cord stromal tumours"/>
  </concept>
  <concept>
    <code value="M20"/>
    <display value="Anaplastic Astrocytoma"/>
  </concept>
  <concept>
    <code value="M21"/>
    <display value="Astrocytoma"/>
  </concept>
  <concept>
    <code value="M22"/>
    <display value="Diffuse Astrocytoma"/>
  </concept>
  <concept>
    <code value="M23"/>
    <display value="Diffuse Midline Glioma"/>
  </concept>
  <concept>
    <code value="M24"/>
    <display value="Embryonal Tumours with Multi-Layered Rosettes"/>
  </concept>
  <concept>
    <code value="M25"/>
    <display value="Ependymoma"/>
  </concept>
  <concept>
    <code value="M26"/>
    <display value="Ependymoma"/>
  </concept>
  <concept>
    <code value="M27"/>
    <display value="Glioblastoma"/>
  </concept>
  <concept>
    <code value="M28"/>
    <display value="Glioma"/>
  </concept>
  <concept>
    <code value="M29"/>
    <display value="High Grade Glioma"/>
  </concept>
  <concept>
    <code value="M30"/>
    <display value="IDH-Wildtype Glioblastoma"/>
  </concept>
  <concept>
    <code value="M31"/>
    <display value="Low Grade Glioma"/>
  </concept>
  <concept>
    <code value="M32"/>
    <display value="Low Grade Glioma/Glioneuronal Tumours"/>
  </concept>
  <concept>
    <code value="M33"/>
    <display value="Meningioma"/>
  </concept>
  <concept>
    <code value="M34"/>
    <display value="Non-Midline Glioma"/>
  </concept>
  <concept>
    <code value="M35"/>
    <display value="OligodendroGlioma"/>
  </concept>
  <concept>
    <code value="M36"/>
    <display value="Pilocytic Astrocytoma"/>
  </concept>
  <concept>
    <code value="M37"/>
    <display value="Pineoblastoma"/>
  </concept>
  <concept>
    <code value="M38"/>
    <display value="Pituitary Tumours"/>
  </concept>
  <concept>
    <code value="M39"/>
    <display value="Rare Primitive Neuroectodermal Tumours Groups 2/3"/>
  </concept>
  <concept>
    <code value="M80"/>
    <display value="Acute Myeloid Leukaemia"/>
  </concept>
  <concept>
    <code value="M81"/>
    <display value="Transient Abnormal Myelopoiesis"/>
  </concept>
  <concept>
    <code value="M82"/>
    <display value="Myelodysplasia"/>
  </concept>
  <concept>
    <code value="M83"/>
    <display value="Aplastic Anaemia"/>
  </concept>
  <concept>
    <code value="M84"/>
    <display value="Chronic Myeloid Leukaemia"/>
  </concept>
  <concept>
    <code value="M85"/>
    <display value="Myeloproliferative Neoplasm"/>
  </concept>
  <concept>
    <code value="M86"/>
    <display value="Systemic Mastocytosis"/>
  </concept>
  <concept>
    <code value="M87"/>
    <display value="Chronic Neutrophilic Leukaemia"/>
  </concept>
  <concept>
    <code value="M88"/>
    <display value="Juvenile Myelomonocytic Leukaemia"/>
  </concept>
  <concept>
    <code value="M89"/>
    <display value="Acute Leukaemia Other"/>
  </concept>
  <concept>
    <code value="M90"/>
    <display value="Blastic Plasmacytoid Dendritic Cell Neoplasm"/>
  </concept>
  <concept>
    <code value="M91"/>
    <display value="Acute Lymphoblastic Leukaemia"/>
  </concept>
  <concept>
    <code value="M92"/>
    <display value="Plasma Cell Dyscrasia"/>
  </concept>
  <concept>
    <code value="M93"/>
    <display value="Lymphoma"/>
  </concept>
  <concept>
    <code value="M94"/>
    <display value="Chronic Lymphocytic Leukaemia"/>
  </concept>
  <concept>
    <code value="M95"/>
    <display value="B cell Non-Hodgkin Lymphoma"/>
  </concept>
  <concept>
    <code value="M96"/>
    <display value="Burkitt Lymphoma"/>
  </concept>
  <concept>
    <code value="M97"/>
    <display value="Burkitt Like Lymphoma with 11q Abnormalities"/>
  </concept>
  <concept>
    <code value="M98"/>
    <display value="Large B Cell Like Lymphoma with IRF4 Rearrangement"/>
  </concept>
  <concept>
    <code value="M99"/>
    <display value="High Grade Lymphoma"/>
  </concept>
  <concept>
    <code value="M100"/>
    <display value="Primary Mediastinal B Cell Lymphoma"/>
  </concept>
  <concept>
    <code value="M101"/>
    <display value="ALK Positive Large B Cell Lymphoma"/>
  </concept>
  <concept>
    <code value="M102"/>
    <display value="Mantle Cell Lymphoma"/>
  </concept>
  <concept>
    <code value="M103"/>
    <display value="Follicular Lymphoma"/>
  </concept>
  <concept>
    <code value="M104"/>
    <display
             value="Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinaemia"/>
  </concept>
  <concept>
    <code value="M105"/>
    <display value="Igm Monoclonal Gammopathy of Uncertain Significance"/>
  </concept>
  <concept>
    <code value="M106"/>
    <display value="Intra-Ocular Lymphoma"/>
  </concept>
  <concept>
    <code value="M107"/>
    <display value="Malt-Lymphoma"/>
  </concept>
  <concept>
    <code value="M108"/>
    <display value="Hairy Cell Leukaemia"/>
  </concept>
  <concept>
    <code value="M109"/>
    <display value="Hairy Cell Leukaemia"/>
  </concept>
  <concept>
    <code value="M110"/>
    <display value="Paediatric Type Follicular Lymphoma"/>
  </concept>
  <concept>
    <code value="M111"/>
    <display value="T Cell Non-Hodgkin Lymphoma"/>
  </concept>
  <concept>
    <code value="M112"/>
    <display
             value="ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes)"/>
  </concept>
  <concept>
    <code value="M113"/>
    <display value="T Prolymphocytic Leukaemia"/>
  </concept>
  <concept>
    <code value="M114"/>
    <display value="Large Granular Lymphocyte Leukaemia"/>
  </concept>
  <concept>
    <code value="M115"/>
    <display value="NK Cell/Gamma-Delta T Cell Lymphoma"/>
  </concept>
  <concept>
    <code value="M116"/>
    <display value="Hepatosplenic T Cell Lymphoma"/>
  </concept>
  <concept>
    <code value="M117"/>
    <display value="Histiocytosis"/>
  </concept>
  <concept>
    <code value="M118"/>
    <display
             value="Any patient undergoing Allogeneic Haematopoietic Stem Cell transplantation"/>
  </concept>
  <concept>
    <code value="M120"/>
    <display value="Atypical Teratoid/Rhabdoid Tumour"/>
  </concept>
  <concept>
    <code value="M126"/>
    <display
             value="CNS High-Grade Neuroepithelial Tumour with MN1 Alteration"/>
  </concept>
  <concept>
    <code value="M130"/>
    <display value="Cribriform Neuroepithelial Tumour"/>
  </concept>
  <concept>
    <code value="M132"/>
    <display value="Desmoplastic Infantile Gangliogliomas"/>
  </concept>
  <concept>
    <code value="M133"/>
    <display value="Desmoplastic Medulloblastoma"/>
  </concept>
  <concept>
    <code value="M136"/>
    <display value="Fibrolamellar Hepatocellular Carcinoma"/>
  </concept>
  <concept>
    <code value="M137"/>
    <display value="Ganglioglioma"/>
  </concept>
  <concept>
    <code value="M138"/>
    <display value="Glial Tumours"/>
  </concept>
  <concept>
    <code value="M139"/>
    <display value="Glioblastoma"/>
  </concept>
  <concept>
    <code value="M145"/>
    <display value="Medulloblastoma"/>
  </concept>
  <concept>
    <code value="M146"/>
    <display value="Medulloblastoma Group 3"/>
  </concept>
  <concept>
    <code value="M147"/>
    <display value="Medulloblastoma Group 3/4"/>
  </concept>
  <concept>
    <code value="M148"/>
    <display value="Medulloblastoma TP53 WT"/>
  </concept>
  <concept>
    <code value="M150"/>
    <display value="Meningioma"/>
  </concept>
  <concept>
    <code value="M153"/>
    <display value="Nodular Brain Tumour"/>
  </concept>
  <concept>
    <code value="M155"/>
    <display value="Oligoastrocytoma"/>
  </concept>
  <concept>
    <code value="M156"/>
    <display value="Oligodendroglioma"/>
  </concept>
  <concept>
    <code value="M158"/>
    <display value="Pilocytic Astrocytoma"/>
  </concept>
  <concept>
    <code value="M159"/>
    <display value="Pituitary Blastoma"/>
  </concept>
  <concept>
    <code value="M160"/>
    <display value="Pleomorphic Xanthoastrocytoma"/>
  </concept>
  <concept>
    <code value="M162"/>
    <display value="Primitive Neuroectodermal Tumours"/>
  </concept>
  <concept>
    <code value="M168"/>
    <display value="Rosette-Forming Glioneuronal Tumour"/>
  </concept>
  <concept>
    <code value="M169"/>
    <display value="Secondary Glioblastoma"/>
  </concept>
  <concept>
    <code value="M170"/>
    <display value="SHH Medulloblastoma"/>
  </concept>
  <concept>
    <code value="M171"/>
    <display value="SHH Medulloblastoma"/>
  </concept>
  <concept>
    <code value="M172"/>
    <display value="SHH Medulloblastoma"/>
  </concept>
  <concept>
    <code value="M179"/>
    <display value="WNT Medulloblastoma"/>
  </concept>
  <concept>
    <code value="M181"/>
    <display value="Hairy Cell Leukaemia"/>
  </concept>
  <concept>
    <code value="M182"/>
    <display value="ALK Positive Anaplastic Large Cell Lymphoma"/>
  </concept>
  <concept>
    <code value="M183"/>
    <display value="Diffuse Midline Glioma"/>
  </concept>
  <concept>
    <code value="M184"/>
    <display value="Glioma"/>
  </concept>
  <concept>
    <code value="M185"/>
    <display value="High Grade Glioma"/>
  </concept>
  <concept>
    <code value="M186"/>
    <display value="Low Grade Glioma"/>
  </concept>
  <concept>
    <code value="M189"/>
    <display value="Brain Tumour"/>
  </concept>
  <concept>
    <code value="M190"/>
    <display value="Embryonal Tumour Differential"/>
  </concept>
  <concept>
    <code value="M191"/>
    <display value="Low Grade Intrinsic Brain Tumour Differential"/>
  </concept>
  <concept>
    <code value="M192"/>
    <display value="High Grade Intrinsic Brain Tumour Differential"/>
  </concept>
  <concept>
    <code value="M193"/>
    <display value="Unable To Grade Intrinsic Brain Tumour"/>
  </concept>
  <concept>
    <code value="M194"/>
    <display value="Medulloblastoma all Subtypes"/>
  </concept>
  <concept>
    <code value="M195"/>
    <display value="Craniopharyngioma"/>
  </concept>
  <concept>
    <code value="M213"/>
    <display value="Glial and Glioneuronal Tumour Differential"/>
  </concept>
  <concept>
    <code value="M224"/>
    <display value="MDS/MPN"/>
  </concept>
  <concept>
    <code value="M225"/>
    <display value="Suspected Lymphoma"/>
  </concept>
  <concept>
    <code value="M235"/>
    <display
             value="Proven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and Treatment"/>
  </concept>
  <concept>
    <code value="R94"/>
    <display value="Not present in 8.0"/>
  </concept>
  <concept>
    <code value="R362"/>
    <display value="Not present in 8.0"/>
  </concept>
</CodeSystem>