- 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

ValueSet: Genomic Rare and Inherited Disease Test Directory

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/RareAndInheritedDiseaseTestCodes				Version: 2.2.0	Highlight text changes?
Draft as of 2026-09-20					Computable Name: RareAndInheritedDiseaseTestCodes

See National genomic test directory for rare and inherited disease (v9) on Genomic Test Directory
All category = rare-and-inherited-disease codes from EnglandTestCode (CodeSystem-GenomicTestCode), checked/refreshed 2026-09-05.

References

Logical Definition (CLD)

Include codes fromhttps://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory version 📦2.2.0 where category = rare-and-inherited-disease

Expansion

Expansion performed internally based on codesystem NHS England Genomic Test Code v2.2.0 (CodeSystem)

This value set contains 457 concepts

System	Code	Display (en)	JSON	XML
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R14.1	Acutely unwell children with a likely monogenic disorder (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R15.4	Primary immunodeficiency or monogenic inflammatory bowel disease (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R15.5	Primary immunodeficiency or monogenic inflammatory bowel disease (WES)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R16.1	Severe combined immunodeficiency with adenosine deaminase deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R17.1	Lymphoproliferative syndrome with absent SAP expression (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R18.1	Haemophagocytic syndrome with absent XIAP expression (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R19.1	Autoimmune lymphoproliferative syndrome with defective apoptosis (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R20.1	Wiskott-Aldrich syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R21.1	Fetal anomalies with a likely genetic cause (Common aneuploidy testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R21.2	Fetal anomalies with a likely genetic cause (Large Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R21.3	Fetal anomalies with a likely genetic cause (Microarray)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R22.1	Fetus with a likely chromosomal abnormality (Common aneuploidy testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R22.2	Fetus with a likely chromosomal abnormality (Microarray)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R23.1	Apert syndrome (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R24.1	Achondroplasia (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R25.1	Thanatophoric dysplasia (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R26.1	Likely common aneuploidy (Common aneuploidy testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R27.3	Paediatric disorders (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R28.1	Congenital malformation and dysmorphism syndromes (Microarray)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R31.3	Bilateral congenital or childhood onset cataracts (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R32.2	Retinal disorders (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R33.1	Possible X-linked retinitis pigmentosa (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R36.2	Structural eye disease (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R38.2	Sporadic aniridia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R39.1	Albinism or congenital nystagmus (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R41.1	Optic neuropathy (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R41.3	Optic neuropathy (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R42.1	Leber hereditary optic neuropathy (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R42.2	Leber hereditary optic neuropathy (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R43.1	Blepharophimosis ptosis and epicanthus inversus (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R43.2	Blepharophimosis ptosis and epicanthus inversus (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R43.3	Blepharophimosis ptosis and epicanthus inversus (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R45.1	Stickler syndrome (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R46.1	Congenital fibrosis of the extraocular muscles (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R47.1	Angelman syndrome (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R48.1	Prader-Willi syndrome (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R49.1	Beckwith-Wiedemann syndrome (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R49.3	Beckwith-Wiedemann syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R50.1	Isolated hemihypertrophy or macroglossia (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R52.1	Short stature - SHOX deficiency (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R52.2	Short stature - SHOX deficiency (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R54.3	Hereditary ataxia with onset in adulthood (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R54.4	Hereditary ataxia with onset in adulthood (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R55.4	Hereditary ataxia with onset in childhood (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R56.3	Adult onset dystonia, chorea or related movement disorder (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R57.5	Childhood onset dystonia, chorea or related movement disorder (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R60.3	Adult onset hereditary spastic paraplegia (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R61.4	Childhood onset hereditary spastic paraplegia (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R62.2	Adult onset leukodystrophy (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R63.1	Possible mitochondrial disorder - nuclear genes (WES or Large Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R64.1	MELAS or MIDD (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R65.1	Aminoglycoside exposure posing risk to hearing (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R66.1	Paroxysmal central nervous system disorders (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R67.1	Monogenic hearing loss (WES or Large Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R68.1	Huntington disease (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R69.5	Hypotonic infant (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R70.1	Spinal muscular atrophy type 1 diagnostic test (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R71.1	Spinal muscular atrophy type 1 rare variant testing (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R72.1	Myotonic dystrophy type 1 (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R73.1	Duchenne or Becker muscular dystrophy (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R73.2	Duchenne or Becker muscular dystrophy (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R74.1	Facioscapulohumeral muscular dystrophy (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R75.1	Oculopharyngeal muscular dystrophy (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R76.1	Skeletal muscle channelopathy (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R77.1	Hereditary neuropathy - PMP22 copy number (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R78.4	Hereditary neuropathy or pain disorder (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R78.5	Hereditary neuropathy or pain disorder (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R79.1	Congenital muscular dystrophy (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R80.1	Congenital myaesthenic syndrome (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R81.1	Congenital myopathy (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R82.1	Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R83.3	Arthrogryposis (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R84.4	Cerebellar anomalies (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R85.2	Holoprosencephaly - NOT chromosomal (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R86.3	Hydrocephalus (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R87.3	Cerebral malformation (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R88.3	Severe microcephaly (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R89.3	Ultra-rare and atypical monogenic disorders (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R90.1	Bleeding and platelet disorders (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R91.1	Cytopenia - NOT Fanconi anaemia (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R91.2	Cytopenia - NOT Fanconi anaemia (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R92.1	Rare anaemia (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R92.2	Rare anaemia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R92.3	Rare anaemia (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R93.1	Sickle cell, thalassaemia and other haemoglobinopathies (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R93.2	Sickle cell, thalassaemia and other haemoglobinopathies (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R95.1	Iron overload - hereditary haemochromatosis testing (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R96.1	Iron metabolism disorders - NOT common HFE variants (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R97.1	Thrombophilia with a likely monogenic cause (WES or Small Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R98.2	Likely inborn error of metabolism (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R98.3	Likely inborn error of metabolism (WES)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R99.1	Common craniosynostosis syndromes (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R99.2	Common craniosynostosis syndromes (Exon level CNV detection by MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R100.3	Rare syndromic craniosynostosis or isolated multisuture synostosis (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R101.1	Ehlers Danlos syndrome with a likely monogenic cause (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R102.1	Osteogenesis imperfecta (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R104.3	Skeletal dysplasia (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R104.4	Skeletal dysplasia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R105.1	MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow up (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R106.1	Alstrom syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R107.1	Bardet Biedl syndrome (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R109.3	Childhood onset leukodystrophy (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R110.1	Segmental overgrowth disorders - Deep sequencing (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R111.1	X-inactivation testing (X-inactivation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R112.1	Factor II deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R115.1	Factor V deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R115.2	Factor V deficiency (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R116.1	Factor VII deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R116.2	Factor VII deficiency (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R117.1	Factor VIII deficiency (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R117.2	Factor VIII deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R117.3	Factor VIII deficiency (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R118.1	Factor IX deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R118.2	Factor IX deficiency (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R119.1	Factor X deficiency (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R119.2	Factor X deficiency (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R120.1	Factor XI deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R120.2	Factor XI deficiency (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R121.1	von Willebrand disease (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R121.2	von Willebrand disease (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R122.1	Factor XIII deficiency (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R123.1	Combined vitamin K-dependent clotting factor deficiency (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R124.1	Combined factor V and VIII deficiency (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R125.1	Thoracic aortic aneurysm or dissection (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R127.1	Long QT syndrome (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R128.1	Brugada syndrome and cardiac sodium channel disease (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R129.1	Catecholaminergic polymorphic VT (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R130.1	Short QT syndrome (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R131.1	Hypertrophic cardiomyopathy (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R132.1	Dilated and Arrhythmogenic cardiomyopathy (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R133.1	Arrhythmogenic right ventricular cardiomyopathy (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R134.1	Familial hypercholesterolaemia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R135.2	Paediatric or syndromic cardiomyopathy (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R135.3	Paediatric or syndromic cardiomyopathy (WES)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R136.1	Primary lymphoedema (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R137.1	Congenital heart disease - microarray (Microarray)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R138.1	Sudden unexplained death or survivors of a cardiac event (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R139.1	Laterality disorders and isomerism (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R140.1	Elastin-related phenotypes (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R141.1	Monogenic diabetes (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R142.1	Glucokinase-related fasting hyperglycaemia (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R143.1	Neonatal diabetes (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R143.3	Neonatal diabetes (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R143.4	Neonatal diabetes (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R144.1	Congenital hyperinsulinism (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R144.2	Congenital hyperinsulinism (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R145.1	Congenital hypothyroidism (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R146.1	Differences in sex development (Microarray)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R146.2	Differences in sex development (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R148.1	Hypogonadotropic hypogonadism (Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R149.1	Severe early-onset obesity (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R150.1	Congenital adrenal hypoplasia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R151.1	Familial hyperparathyroidism or Hypocalciuric hypercalcaemia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R153.1	Familial hypoparathyroidism (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R154.1	Hypophosphataemia or rickets (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R155.1	Autoimmune Polyendocrine Syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R156.1	Carney complex (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R157.1	IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R158.1	Severe insulin resistance and lipodystrophy syndromes (Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R159.1	Pituitary hormone deficiency (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R160.1	Primary pigmented nodular adrenocortical disease (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R162.1	Familial tumoral calcinosis (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R163.1	Ectodermal dysplasia (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R164.1	Epidermolysis bullosa and congenital skin fragility (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R165.1	Ichthyosis and erythrokeratoderma (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R166.1	Palmoplantar keratodermas (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R167.1	Autosomal recessive primary hypertrophic osteoarthropathy (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R168.1	Non-acute porphyrias (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R169.1	Acute intermittent porphyria (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R170.1	Variegate porphyria (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R171.1	Cholestasis (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R172.1	Wilson disease (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R173.1	Polycystic liver disease (WES or Small Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R175.1	Pancreatitis (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R176.1	Gilbert syndrome (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R180.1	Congenital adrenal hyperplasia diagnostic test (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R180.2	Congenital adrenal hyperplasia diagnostic test (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R181.1	Congenital adrenal hyperplasia carrier testing (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R181.2	Congenital adrenal hyperplasia carrier testing (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R182.1	Hyperthyroidism (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R183.1	Glucocorticoid-remediable aldosteronism (GRA) (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R184.1	Cystic fibrosis diagnostic test (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R184.2	Cystic fibrosis diagnostic test (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R184.3	Cystic fibrosis diagnostic test (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R185.1	Cystic fibrosis carrier testing (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R186.1	Hereditary haemorrhagic telangiectasia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R188.1	Pulmonary arterial hypertension (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R189.1	Respiratory ciliopathies including non-CF bronchiectasis (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R190.1	Pneumothorax - familial (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R191.1	Alpha-1-antitrypsin deficiency (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R193.4	Cystic renal disease (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R194.1	Haematuria (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R195.3	Proteinuric renal disease (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R196.1	CFHR5 nephropathy (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R197.1	Membranoproliferative glomerulonephritis including C3 glomerulopathy (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R197.2	Membranoproliferative glomerulonephritis including C3 glomerulopathy (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R198.1	Renal tubulopathies (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R199.1	Congenital anomalies of the kidney and urinary tract - familial (Microarray)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R201.1	Atypical haemolytic uraemic syndrome (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R202.1	Tubulointerstitial kidney disease (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R204.1	Hereditary Systemic Amyloidosis (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R207.1	Inherited ovarian cancer (without breast cancer) (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R208.1	Inherited breast cancer and ovarian cancer (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R210.2	Inherited MMR deficiency (Lynch syndrome) (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R210.4	Inherited MMR deficiency (Lynch syndrome) (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R210.6	Inherited MMR deficiency (Lynch syndrome) (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R211.1	Inherited polyposis and early onset colorectal cancer - germline testing (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R211.3	Inherited polyposis and early onset colorectal cancer - germline testing (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R212.1	Peutz Jeghers Syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R213.1	PTEN Hamartoma Tumor Syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R214.1	Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R215.1	Hereditary diffuse gastric cancer (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R216.1	Li Fraumeni Syndrome (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R217.1	Endocrine neoplasia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R218.1	Multiple endocrine neoplasia type 2 (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R219.1	Retinoblastoma (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R219.2	Retinoblastoma (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R221.1	Familial tumours of the nervous system (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R221.2	Familial tumours of the nervous system (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R222.1	Neurofibromatosis type 1 (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R222.2	Neurofibromatosis type 1 (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R223.1	Inherited phaeochromocytoma and paraganglioma excluding NF1 (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R224.1	Inherited renal cancer (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R225.1	Von Hippel Lindau syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R226.1	Inherited parathyroid cancer (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R227.1	Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R227.2	Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (DNA repair defect testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R228.1	Tuberous sclerosis (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R228.2	Tuberous sclerosis (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R228.3	Tuberous sclerosis (Small panel - deep sequencing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R229.1	Confirmed Fanconi anaemia or Bloom syndrome - variant testing (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R230.1	Multiple monogenic benign skin tumours (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R231.2	Neuronal ceroid lipofuscinosis (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R232.1	Haemophagocytic syndrome with absent perforin expression (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R233.1	Agammaglobulinaemia with absent BTK expression (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R234.1	Severe combined immunodeficiency with PNP deficiency (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R235.1	SCID with features of gamma chain deficiency (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R236.1	Pigmentary skin disorders (WES or Large panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R236.2	Pigmentary skin disorders (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R237.1	Cutaneous photosensitivity with a likely genetic cause (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R239.1	Incontinentia pigmenti (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R239.2	Incontinentia pigmenti (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R240.1	Diagnostic testing for known variant(s) (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R242.1	Predictive testing for known familial variant(s) (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R244.1	Carrier testing for known familial variant(s) (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R246.1	Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R249.1	NIPD using paternal exclusion testing for very rare conditions where familial variant is known (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R250.1	NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R251.1	Non-invasive prenatal sexing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R252.1	SMA carrier testing at population risk for partners of known carriers (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R253.1	Cystic fibrosis newborn screening follow-up (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R254.1	Familial melanoma (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R255.1	Epidermodysplasia verruciformis (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R256.1	Nephrocalcinosis or nephrolithiasis (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R257.2	Unexplained young onset end-stage renal disease (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R257.3	Unexplained young onset end-stage renal disease (WES)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R258.1	Cytopenia - Fanconi breakage testing indicated (DNA repair defect testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R258.2	Cytopenia - Fanconi breakage testing indicated (Small Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R259.1	Nijmegen breakage syndrome (DNA repair defect testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R259.2	Nijmegen breakage syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R260.1	Fanconi anaemia or Bloom syndrome - chromosome breakage testing (DNA repair defect testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R262.1	Corneal dystrophy (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R263.1	Confirmation of uniparental disomy (UPD testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R264.1	Identity testing (Identity testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R265.1	Chromosomal mosaicism - karyotype (Karyotype)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R268.1	Kagami-Ogata syndrome - paternal uniparental disomy 14 (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R270.1	Smith-Lemli-Opitz syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R270.2	Smith-Lemli-Opitz syndrome (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R271.1	Neuronal ceroid lipofuscinosis type 2 (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R272.1	Gaucher disease (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R273.1	Glycogen storage disease V (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R274.1	Glycogen storage disease (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R275.1	Glutaric acidaemia I newborn screening follow up (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R276.1	Lysosomal storage disorder (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R277.1	Mucopolysaccharidosis type IH/S (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R278.1	Mucopolysaccharidosis type II (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R278.2	Mucopolysaccharidosis type II (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R279.1	Isovaleric acidaemia newborn screening follow up (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R280.1	Krabbe disease – GALC deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R280.2	Krabbe disease – GALC deficiency (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R281.1	Krabbe disease - Saposin A deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R282.1	Niemann-Pick disease type A or B (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R283.1	Phenylketonuria (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R285.1	Sandhoff disease (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R286.1	Tay-Sachs disease (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R287.1	Mucopolysaccharidosis type IVA (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R288.1	GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R289.1	Mucolipidosis II and III Alpha/Beta (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R290.1	Mucopolysaccharidosis type VI (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R291.1	Mucopolysaccharidosis type IIIA (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R292.1	Mucopolysaccharidosis type IIIB (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R293.1	Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R293.2	Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R294.1	Ataxia telangiectasia - DNA repair testing (DNA repair defect testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R295.1	Ataxia telangiectasia - variant testing (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R296.1	RNA analysis of variants (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R298.1	Possible structural or mosaic chromosomal abnormality - FISH (FISH)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R299.1	Possible mitochondrial disorder - mitochondrial DNA rearrangement testing (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R299.2	Possible mitochondrial disorder - mitochondrial DNA rearrangement testing (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R299.3	Possible mitochondrial disorder - mitochondrial DNA rearrangement testing (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R300.1	Possible mitochondrial disorder - whole mitochondrial genome sequencing (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R301.1	Possible mitochondrial disorder - mitochondrial DNA depletion testing (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R304.1	NIPD for cystic fibrosis - haplotype testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R305.1	NIPD for cystic fibrosis - variant testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R306.1	NIPD for Apert syndrome - variant testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R307.1	NIPD for Crouzon syndrome with acanthosis nigricans - variant testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R308.1	NIPD for FGFR2-related craniosynostosis syndromes - variant testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R309.1	NIPD for FGFR3-related skeletal dysplasias - variant testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R310.1	NIPD for Duchenne and Becker muscular dystrophy - haplotype testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R311.1	NIPD for spinal muscular atrophy - variant testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R312.1	Parental sequencing for lethal autosomal recessive disorders (WES or Large panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R313.1	Neutropaenia consistent with ELANE variants (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R314.1	Ambiguous genitalia (Common aneuploidy testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R314.2	Ambiguous genitalia (Karyotype)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R315.1	POLG-related disorder (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R315.2	POLG-related disorder (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R316.1	Pyruvate dehydrogenase (PDH) deficiency (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R317.1	Mitochondrial liver disease, including transient infantile liver failure (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R318.1	Recurrent miscarriage with products of conception available for testing (Common aneuploidy testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R318.2	Recurrent miscarriage with products of conception available for testing (Microarray)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R319.1	Calcium-sensing receptor phenotypes (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R320.1	Invasive prenatal diagnosis requiring fetal sexing (Common aneuploidy testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R321.1	Maternal cell contamination testing (Identity testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R322.1	Skin fibroblasts to be cultured and stored (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R323.1	Sitosterolaemia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R324.1	Familial Chylomicronaemia Syndrome (FCS) (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R325.1	Lysosomal acid lipase deficiency (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R326.1	Vascular skin disorders (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R327.1	Mosaic skin disorders - deep sequencing (Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R328.1	Progressive cardiac conduction disease (WES or Small Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R329.1	Familial dysalbuminaemic hyperthyroxinaemia (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R330.1	Alveolar capillary dysplasia with misalignment of pulmonary veins (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R331.1	Intestinal failure or congenital diarrhoea (WES or Small Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R332.1	Rare genetic inflammatory skin disorders (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R333.1	Central congenital hypoventilation (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R333.2	Central congenital hypoventilation (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R334.1	Cystinosis (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R335.1	Fabry disease (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R335.2	Fabry disease (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R336.1	Cerebral vascular malformations (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R337.1	CADASIL (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R338.1	Monitoring for G(M)CSF escape variants (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R340.1	Amelogenesis imperfecta (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R341.1	Hereditary angioedema types I and II (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R343.1	Chromosomal mosaicism - microarray (Microarray)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R344.1	Primary hyperaldosteronism - KCNJ5 (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R345.1	Facioscapulohumeral muscular dystrophy - extended testing (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R345.2	Facioscapulohumeral muscular dystrophy - extended testing (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R345.3	Facioscapulohumeral muscular dystrophy - extended testing (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R346.1	DNA to be stored (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R347.1	Inherited predisposition to acute myeloid leukaemia (AML) (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R350.1	MERRF syndrome (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R351.1	NARP syndrome or maternally inherited Leigh syndrome (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R351.2	NARP syndrome or maternally inherited Leigh syndrome (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R352.1	Mitochondrial DNA maintenance disorder (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R353.1	Mitochondrial disorder with complex I deficiency (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R354.1	Mitochondrial disorder with complex II deficiency (WES or Small Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R355.1	Mitochondrial disorder with complex III deficiency (WES or Small Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R356.1	Mitochondrial disorder with complex IV deficiency (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R357.1	Mitochondrial disorder with complex V deficiency (WES or Small Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R361.1	Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R361.2	Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R363.1	Inherited predisposition to GIST (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R364.1	DICER1-related cancer predisposition (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R365.1	Fumarate hydratase-related tumour syndromes (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R366.1	Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R367.1	Inherited pancreatic cancer (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R368.1	Hereditary angioedema type III (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R370.1	Validation of unaccredited findings (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R371.1	Malignant hyperthermia (small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R372.1	Newborn screening for sickle cell disease in a transfused baby (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R373.1	RNA to be stored (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R374.1	Other sample to be stored (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R375.1	Family follow-up testing to aid variant interpretation (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R376.1	Segmental or atypical neurofibromatosis type 1 testing (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R376.2	Segmental or atypical neurofibromatosis type 1 testing (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R380.1	Niemann Pick disease type C (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R380.2	Niemann Pick disease type C (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R381.2	Other rare neuromuscular disorders (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R382.1	Hypochondroplasia (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R383.1	Linkage testing for Huntington disease (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R384.1	Generalised arterial calcification in infancy (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R387.1	Reanalysis of existing data (Other)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R389.1	NIPD - pre-pregnancy test work-up (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R390.1	Multiple exostoses (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R390.2	Multiple exostoses (MLPA or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R391.1	Barth syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R394.1	Mitochondrial neurogastrointestinal encephalopathy (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R395.1	Thiamine metabolism dysfunction syndrome 2 (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R396.1	Mitochondrial Complex V deficiency, TMEM70 type (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R397.1	Maternally inherited cardiomyopathy (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R401.1	Common aneuploidy testing - prenatal (Common aneuploidy testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R402.1	Premature ovarian insufficiency (Karyotype or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R402.2	Premature ovarian insufficiency (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R403.1	MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R404.1	Testing of unaffected individuals for inherited cancer predisposition syndromes (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R404.3	Testing of unaffected individuals for inherited cancer predisposition syndromes (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R405.1	Hereditary Erythrocytosis (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R406.1	Thrombocythaemia (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R409.1	Linkage testing for other recognisable Mendelian disorders (Linkage analysis)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R410.1	Myotonic dystrophy type 2 (DM2) (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R411.1	Y chromosome microdeletion (Targeted variant testing or equivalent)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R412.1	Fetal anomalies with a likely genetic cause - non urgent (WES or Large Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R413.1	Autoinflammatory Disorders (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R414.1	APC associated Polyposis (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R416.1	Syndromic and non syndromic craniosynostosis involving midline sutures (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R417.1	Multi Locus Imprinting Disorder (MLID) (MLPA)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R417.2	Multi Locus Imprinting Disorder (MLID) (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R419.1	Acute Rhabdomyolysis (Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R420.1	Pseudoxanthoma elasticum (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R421.1	Pulmonary Fibrosis, Familial (Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R422.1	BAP1 associated tumour predisposition syndrome (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R423.1	NIPD for Retinoblastoma - haplotype testing (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R424.1	Subcutaneous panniculitis T-cell lymphoma (SPTCL) (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R426.1	Pulmonary alveolar microlithiasis (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R428.1	Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) (STR testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R428.2	Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) (FISH)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R430.1	Inherited prostate cancer (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R431.1	Genome-wide DNA Methylation Profiling to Aid Variant Interpretation (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R433.1	Monogenic diabetes, subtype glucokinase - NIPT (NIPD)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R436.1	Hereditary alpha tryptasaemia (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R438.1	Paediatric pseudo-obstruction syndrome (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R440.1	Hereditary isolated diabetes insipidus (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R441.1	Unexplained death in infancy and sudden unexplained death in childhood (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R442.1	Variant re-interpretation (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R443.1	Confirmation test (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R444.1	NICE approved PARP inhibitor treatment (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R444.2	NICE approved PARP inhibitor treatment (Small panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R445.1	T21, T18 and T13 aneuploidy testing - NIPT (previous history) (NIPT)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R446.1	APOL1 kidney donor testing (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R447.1	Validation of WGS Diagnostic discovery (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R448.1	Prenatal testing (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R449.1	Diagnostic testing for Glutaric acidaemia I (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R450.1	Diagnostic testing for Isovaleric acidaemia (Single gene sequencing >=10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R451.1	Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing (Single gene sequencing <10 amplicons)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R452.1	Silver russell syndrome and Temple Syndrome (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R453.1	Monogenic short stature (WES or Medium panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R454.1	Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy (Targeted variant testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R456.1	Embryonal tumour of possible germline origin (WES or Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R456.2	Embryonal tumour of possible germline origin (Methylation testing)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R457.1	Sarcoma of possible germline origin (Small Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R458.1	Young onset or familial dementia (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R459.1	Young onset or complex Parkinson disease (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R460.1	Amyotrophic lateral sclerosis (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R461.1	Cerebral amyloid angiopathy (WGS)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R462.1	Childhood interstitial lung disease (Medium Panel)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R463.1	Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis (Karyotype)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R464.1	Recurrent miscarriage where products of conception are not available for testing - parental karyotype (Karyotype)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R465.1	Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis (Karyotype)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R466.1	Unexplained infertility - karyotype (Karyotype)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R467.1	Gamete donors - karyotype (Karyotype)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R468.1	Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis (Karyotype)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R470.1	T21, T18, and T13 aneuploidy testing - NIPT NHS Fetal Anomaly Screening Programme (FASP) (NIPT)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R471.1	Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing (Linkage analysis)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R471.2	Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing (Linkage analysis)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R471.3	Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing (Linkage analysis)
`https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory`	R471.4	Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing (Linkage analysis)

Description of the above table(s).