Genomics England

297 panels

Panel
297 panels
Acute intermittent porphyria Relevant disorders: R169 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Acute rhabdomyolysis Relevant disorders: R419 Version 2.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Adult onset dystonia, chorea or related movement disorder Relevant disorders: Adult onset movement disorder Version 6.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Adult-onset neurological disorders Signed Off on 6 May 2026
Adult onset hereditary spastic paraplegia Relevant disorders: Hereditary spastic paraplegia - adult onset Version 6.10 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Adult-onset neurological disorders Signed Off on 6 May 2026
Adult onset leukodystrophy Relevant disorders: White matter disorders - adult onset, R62 Version 7.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Adult onset neurodegenerative disorder Relevant disorders: Neurodegenerative disorders - adult onset, Young onset or familial dementia, Young onset or complex Parkinson disease, Amyotrophic lateral sclerosis, Cerebral amyloid angiopathy, R58 Version 9.0 Panel Types: GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Adult-onset neurological disorders Signed Off on 6 May 2026
Adult solid tumours cancer susceptibility Relevant disorders: Carcinoma of unknown primary, Other, Adult solid tumours pertinent cancer susceptibility Version 2.2 Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off Signed Off on 18 Feb 2020
Adult-onset neurological disorders Relevant disorders: R54, R56, R60, R458, R459, R460, R461, Hereditary ataxia with onset in adulthood, Adult onset dystonia, chorea or related movement disorder, Adult onset hereditary spastic paraplegia, Young onset or familial dementia, Young onset or complex Parkinson disease, Amyotrophic lateral sclerosis, Cerebral amyloid angiopathy Version 9.3 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Agammaglobulinaemia with absent BTK expression Relevant disorders: R233 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Albinism or congenital nystagmus Relevant disorders: R39 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis Relevant disorders: R293 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Alstrom syndrome Relevant disorders: R106 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Alveolar capillary dysplasia with misalignment of pulmonary veins Relevant disorders: R330 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Amelogenesis imperfecta Relevant disorders: Amelogenesis Imperfecta, R340 Version 4.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
APC associated Polyposis Relevant disorders: R414 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Arrhythmogenic right ventricular cardiomyopathy Relevant disorders: Arrhythmogenic cardiomyopathy, R133 Version 3.15 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Arthrogryposis Relevant disorders: R83 Version 10.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Ataxia and cerebellar anomalies - narrow panel Version 9.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Signed Off on 6 May 2026
Ataxia telangiectasia - mutation testing Relevant disorders: R295 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Atypical haemolytic uraemic syndrome Relevant disorders: R201 Version 3.8 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Autoimmune lymphoproliferative syndrome with defective apoptosis Relevant disorders: R19 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Autoimmune Polyendocrine Syndrome Relevant disorders: R155 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Autoinflammatory disorders Relevant disorders: R413 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Autosomal recessive primary hypertrophic osteoarthropathy Relevant disorders: R167 Version 2.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
BAP1 associated tumour predisposition syndrome Relevant disorders: R422 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Bardet Biedl syndrome Relevant disorders: R107 Version 2.16 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Barth syndrome Relevant disorders: R391 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Beckwith-Wiedemann syndrome Relevant disorders: R49.3 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Bilateral congenital or childhood onset cataracts Relevant disorders: Cataracts, R31 Version 8.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Bleeding and platelet disorders Relevant disorders: R90 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Blepharophimosis ptosis and epicanthus inversus Relevant disorders: R43 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Brain cancer pertinent cancer susceptibility Relevant disorders: Adult Glioma Version 1.0 Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off Signed Off on 29 Sept 2021
Breast cancer pertinent cancer susceptibility Relevant disorders: Breast Version 2.0 Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off Signed Off on 22 Mar 2023
Brugada syndrome and cardiac sodium channel disease Relevant disorders: Brugada syndrome, R128 Version 3.15 Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cardiac arrhythmias, Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
CADASIL Relevant disorders: R337 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Calcium-sensing receptor phenotypes Relevant disorders: R319 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Cardiac arrhythmias Relevant disorders: Cardiac arrythmias Version 14.21 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Cardiac arrhythmias - additional genes Version 3.11 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cardiac arrhythmias Signed Off on 6 May 2026
Carney complex Relevant disorders: R156 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Catecholaminergic polymorphic VT Relevant disorders: Catecholaminergic Polymorphic Ventricular Tachycardia, R129 Version 5.3 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cardiac arrhythmias, Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Central congenital hypoventilation Relevant disorders: R333 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Cerebral malformation Relevant disorders: Cerebral malformations, R87 Version 16.2 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Cerebral vascular malformations Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease, R336 Version 5.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Childhood interstitial lung disease Relevant disorders: R462 Version 1.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Childhood onset dystonia, chorea or related movement disorder Relevant disorders: Childhood onset dystonia or chorea or related movement disorder, R57 Version 8.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Childhood onset hereditary spastic paraplegia Relevant disorders: Hereditary spastic paraplegia - childhood onset, R61 Version 9.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Childhood onset leukodystrophy Relevant disorders: White matter disorders - childhood onset, R109 Version 31.2 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Childhood solid tumours Relevant disorders: Paediatric congenital malformation-dysmorphism-tumour syndrome, Paediatric congenital malformation-dysmorphism-tumour syndromes, Paediatric congenital malformation-dysmorphism-tumour sydromes, Paediatric congenital malformation-dysmorphism-tumour syndrome, Tumour predisposition - childhood onset Version 5.11 Panel Types: Rare Disease 100K, GMS Cancer Germline Virtual, GMS signed-off Signed Off on 6 May 2026
Cholestasis Relevant disorders: R171 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Clefting Relevant disorders: Familial non-syndromic cleft lip and or familial cleft palate, Familial non-syndromic clefting, Syndromic cleft lip and or cleft palate, Syndromic clefting Version 7.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders Signed Off on 6 May 2026
Combined factor V and VIII deficiency Relevant disorders: R124 Version 1.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 3 Mar 2020
Combined vitamin K-dependent clotting factor deficiency Relevant disorders: R123 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Common craniosynostosis syndromes Relevant disorders: R99 Version 1.16 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Confirmed Fanconi anaemia or Bloom syndrome Relevant disorders: R229, R258, Confirmed Fanconi anaemia or Bloom syndrome - mutation testing, Cytopenia - Fanconi breakage testing indicated Version 2.5 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 1 May 2024
Congenital adrenal hyperplasia diagnostic test Relevant disorders: R180 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Congenital adrenal hypoplasia Relevant disorders: R150 Version 5.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Congenital disorders of glycosylation Relevant disorders: Congential disorders of glycosylation Version 8.0 Panel Types: Rare Disease 100K, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Signed Off on 6 May 2026
Congenital fibrosis of the extraocular muscles Relevant disorders: R46 Version 2.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Congenital hyperinsulinism Relevant disorders: Hyperinsulinism, R144 Version 3.7 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Congenital hypothyroidism Relevant disorders: Congenital hypothyroidism or thyroid agenesis, R145 Version 3.3 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Congenital muscular dystrophy Relevant disorders: R79 Version 7.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders Signed Off on 6 May 2026
Congenital myaesthenic syndrome Relevant disorders: Congenital myaesthenia, Congenital myasthenia, R80 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders Signed Off on 6 May 2026
Congenital myopathy Relevant disorders: R81 Version 7.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders Signed Off on 6 May 2026
Corneal dystrophy Relevant disorders: Corneal dystrophies, R262 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Cutaneous photosensitivity with a likely genetic cause Relevant disorders: R237 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Cystic fibrosis diagnostic test Relevant disorders: R184 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Cystic kidney disease Relevant disorders: Cystic kidney disease Version 9.0 Panel Types: Rare Disease 100K, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cystic renal disease, Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Cystic renal disease Relevant disorders: Cystic renal disease - PKD1, R193 Version 13.2 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Cystinosis Relevant disorders: R334 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Cytopenia - NOT Fanconi anaemia Relevant disorders: R91 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
DDG2P Version 7.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders Signed Off on 6 May 2026
Diagnostic testing for Glutaric acidaemia I Relevant disorders: R449 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
Diagnostic testing for Isovaleric acidaemia Relevant disorders: R450 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing Relevant disorders: R451 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
DICER1-related cancer predisposition Relevant disorders: R364 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Differences in sex development Relevant disorders: R146, Disorders of sex development Version 4.20 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Dilated and arrhythmogenic cardiomyopathy Relevant disorders: Dilated cardiomyopathy - adult and teen, R132 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Distal myopathies Version 7.0 Panel Types: Rare Disease 100K, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders Signed Off on 6 May 2026
Duchenne or Becker muscular dystrophy Relevant disorders: R73 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Early onset or syndromic epilepsy Relevant disorders: Epilepsy Plus, Epilepsy plus other features, Genetic Epilepsy Syndromes, Epileptic encephalopathy, Familial Focal Epilepsies, Familial Genetic Generalised Epilepsies, Genetic Epilepsies with Febrile Seizures Plus (GEFS+), Genetic Epilepsies with Febrile Seizures Plus, Early onset or syndromic epilepsy, Genetic epilepsy syndromes, R59 Version 9.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Ectodermal dysplasia Relevant disorders: R163 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Ehlers Danlos syndrome with a likely monogenic cause Relevant disorders: Classical Ehlers Danlos Syndrome, Classical Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense), Ehlers-Danlos syndrome type 3, Kyphoscoliotic Ehlers-Danlos syndrome, EDS, Ehlers-Danlos syndromes, Ehlers Danlos syndromes, R101 Version 4.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Elastin-related phenotypes Relevant disorders: R140 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Embryonal tumour of possible germline origin Relevant disorders: R456 Version 1.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Endocrine neoplasia Relevant disorders: Endocrine neoplasms, R217 Version 3.4 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Epidermodysplasia verruciformis Relevant disorders: R255 Version 1.3 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 15 Oct 2020
Epidermolysis bullosa and congenital skin fragility Relevant disorders: R164 Version 2.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Fabry disease Relevant disorders: R335 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Facioscapulohumeral muscular dystrophy - extended testing Relevant disorders: R345 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Factor II deficiency Relevant disorders: R112 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Factor IX deficiency Relevant disorders: R118 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Factor V deficiency Relevant disorders: R115 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Factor VII deficiency Relevant disorders: R116 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Factor VIII deficiency Relevant disorders: R117 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Factor X deficiency Relevant disorders: R119 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Factor XI deficiency Relevant disorders: R120 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Factor XIII deficiency Relevant disorders: R122 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Familial chylomicronaemia syndrome (FCS) Relevant disorders: Lipoprotein lipase deficiency, R324 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Familial dysalbuminaemic hyperthyroxinaemia Relevant disorders: R329 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Familial hypercholesterolaemia (GMS) Relevant disorders: Familial hypercholesterolaemia - targeted panel, R134 Version 2.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Familial hyperparathyroidism or hypocalciuric hypercalcaemia Relevant disorders: Familial hyperparathyroidism, Hypocalciuric hypercalcaemia, R151 Version 3.7 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Familial hypoparathyroidism Relevant disorders: Familial or syndromic hypoparathyroidism, R153 Version 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Familial melanoma Relevant disorders: R254 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
Familial tumoral calcinosis Relevant disorders: R162 Version 1.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 19 Feb 2020
Familial tumours of the nervous system Relevant disorders: R221 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Fetal anomalies Relevant disorders: R21, Fetal anomalies with a likely genetic cause, Fetal anomalies with a likely genetic cause - non urgent, R412 Version 7.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Fumarate hydratase-related tumour syndromes Relevant disorders: R365 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Gaucher disease Relevant disorders: R272 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Generalised arterial calcification in infancy Relevant disorders: R384 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Glucokinase-related fasting hyperglycaemia Relevant disorders: R142 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Glycogen storage disease Relevant disorders: R274 Version 2.6 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Glycogen storage disease V Relevant disorders: R273 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB Relevant disorders: R288 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Haematological malignancies cancer susceptibility Relevant disorders: Haemonc, Haematological malignancies pertinent cancer susceptibility Version 5.0 Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off Signed Off on 6 May 2026
Haematuria Relevant disorders: Alport syndrome, Familial haematuria, R194 Version 2.17 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Haemophagocytic syndrome with absent perforin expression Relevant disorders: R232 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Haemophagocytic syndrome with absent XIAP expression Relevant disorders: R18 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Hereditary angioedema types I and II Relevant disorders: R341 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Hereditary ataxia and cerebellar anomalies - childhood onset Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84 Version 23.1 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Hereditary ataxia with onset in adulthood Relevant disorders: Hereditary ataxia - adult onset Version 9.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Adult-onset neurological disorders Signed Off on 6 May 2026
Hereditary diffuse gastric cancer Relevant disorders: CDH1-related cancer syndrome, R215 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 20 Dec 2023
Hereditary Erythrocytosis Relevant disorders: R405 Version 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Hereditary haemorrhagic telangiectasia Relevant disorders: Familial and multiple pulmonary arteriovenous malformations, R186 Version 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
Hereditary isolated diabetes insipidus Relevant disorders: Neuropophyseal diabetes insipidus, R440 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 20 Dec 2023
Hereditary neuropathy or pain disorder Relevant disorders: Hereditary neuropathy NOT PMP22 copy number, Hereditary neuropathy or pain disorder - NOT PMP22 copy number, R78 Version 8.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Hereditary systemic amyloidosis Relevant disorders: Amyloidosis, R204 Version 1.28 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Holoprosencephaly Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly - NOT chromosomal, R85 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cerebral malformation, Paediatric disorders Signed Off on 6 May 2026
Hydrocephalus Relevant disorders: Hydrocephalus, R86 Version 5.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 7 Aug 2024
Hyperthyroidism Relevant disorders: Resistance to thyroid hormone, R182 Version 3.5 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Hypertrophic cardiomyopathy Relevant disorders: Hypertrophic cardiomyopathy - teen and adult, HCM, R131 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Hypogonadotropic hypogonadism (GMS) Relevant disorders: Hypogonadotropic hypogonadism idiopathic, R148 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Hypophosphataemia or rickets Relevant disorders: R154 Version 4.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Hypotonic infant Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant with a likely central cause, R69 Version 46.1 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Ichthyosis and erythrokeratoderma Relevant disorders: R165 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Incontinentia pigmenti Relevant disorders: R239 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Inherited breast cancer and ovarian cancer Relevant disorders: R208 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited MMR deficiency (Lynch syndrome) Relevant disorders: R210 Version 1.13 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited ovarian cancer (without breast cancer) Relevant disorders: Familial ovarian cancer, R207 Version 5.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited pancreatic cancer Relevant disorders: R367 Version 3.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited parathyroid cancer Relevant disorders: R226 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Inherited phaeochromocytoma and paraganglioma excluding NF1 Relevant disorders: R223 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited polyposis and early onset colorectal cancer - germline testing Relevant disorders: Inherited polyposis, R211 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited predisposition to acute myeloid leukaemia (AML) Relevant disorders: R347 Version 3.5 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited predisposition to GIST Relevant disorders: R363 Version 1.15 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited prostate cancer Relevant disorders: R430 Version 1.5 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited renal cancer Relevant disorders: R224 Version 1.28 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) Relevant disorders: R366 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Intellectual disability Relevant disorders: Coarse facial features including Coffin-Siris-like disorders, ID, Moderate, severe or profound intellectual disability, Schizophrenia plus additional features, Intellectual disability - microarray, fragile X and sequencing, Intellectual disability - microarray and sequencing, R29 Version 10.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Childhood onset leukodystrophy, Hypotonic infant, Paediatric disorders Signed Off on 6 May 2026
Intestinal failure or congenital diarrhoea Relevant disorders: R331, Intestinal failure Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked Relevant disorders: R157 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Iron metabolism disorders - NOT common HFE mutations Relevant disorders: Iron metabolism disorders, R96 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Krabbe disease - GALC deficiency Relevant disorders: R280 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Krabbe disease - Saposin A deficiency Relevant disorders: R281 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Laterality disorders and isomerism Relevant disorders: R139 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Li Fraumeni Syndrome Relevant disorders: R216 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Likely inborn error of metabolism Relevant disorders: Likely inborn error of metabolism - targeted testing not possible, Inborn errors of metabolism, R98 Version 9.0 Panel Types: GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Childhood onset leukodystrophy, Hypotonic infant, Paediatric disorders, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Limb disorders Version 8.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders Signed Off on 6 May 2026
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Relevant disorders: Limb girdle muscular dystrophy, R82 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders Signed Off on 6 May 2026
Long QT syndrome Relevant disorders: Long QT, R127 Version 3.12 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cardiac arrhythmias, Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Lymphoproliferative syndrome with absent SAP expression Relevant disorders: R17 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Lysosomal acid lipase deficiency Relevant disorders: R325 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Lysosomal storage disorder Relevant disorders: R276 Version 3.5 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Malformations of cortical development Version 8.0 Panel Types: Rare Disease 100K, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cerebral malformation, Paediatric disorders Signed Off on 6 May 2026
Malignant hyperthermia Relevant disorders: R371 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
Membranoproliferative glomerulonephritis including C3 glomerulopathy Relevant disorders: PMG, MPGN, Primary Membranoproliferative Glomerulonephritis, Primary membranoproliferative glomerulonephritis, Membranoproliferative glomerulonephritis, R197 Version 3.8 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Mitochondrial Complex V deficiency, TMEM70 type Relevant disorders: R396 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Mitochondrial disorder with complex I deficiency Relevant disorders: R353 Version 4.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Mitochondrial disorder with complex II deficiency Relevant disorders: R354 Version 2.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Mitochondrial disorder with complex III deficiency Relevant disorders: R355 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Mitochondrial disorder with complex IV deficiency Relevant disorders: R356 Version 5.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Mitochondrial disorder with complex V deficiency Relevant disorders: R357 Version 3.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Mitochondrial disorders Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features Version 10.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Childhood onset leukodystrophy Signed Off on 6 May 2026
Mitochondrial DNA maintenance disorder Relevant disorders: R352 Version 3.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Mitochondrial liver disease, including transient infantile liver failure Relevant disorders: Mitochondrial liver disease, R317 Version 1.9 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Mitochondrial neurogastrointestinal encephalopathy Relevant disorders: R394 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Monitoring for G(M)CSF escape mutations Relevant disorders: R338 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Monogenic diabetes Relevant disorders: R141 Version 3.21 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Monogenic hearing loss Relevant disorders: Hearing loss, Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), Non-syndromic hearing loss, R67 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders Signed Off on 6 May 2026
Monogenic short stature Relevant disorders: R453 Version 2.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Mosaic skin disorders - deep sequencing Relevant disorders: R327 Version 3.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Mucolipidosis II and III Alpha or Beta Relevant disorders: R289, Mucolipidosis II and III Alpha/Beta Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Mucopolysaccharidosis type IH or S Relevant disorders: R277, Mucopolysaccharidosis type IH/S Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Mucopolysaccharidosis type II Relevant disorders: R278 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Mucopolysaccharidosis type IIIA Relevant disorders: R291 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Mucopolysaccharidosis type IIIB Relevant disorders: R292 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Mucopolysaccharidosis type IVA Relevant disorders: R287 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Mucopolysaccharidosis type VI Relevant disorders: R290 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Multi locus imprinting disorders Relevant disorders: R417.2 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Multiple endocrine neoplasia type 2 Relevant disorders: R218 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Multiple exostoses Relevant disorders: R390 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Multiple monogenic benign skin tumours Relevant disorders: R230 Version 2.5 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
NARP syndrome or maternally inherited Leigh syndrome Relevant disorders: R351 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
Neonatal diabetes Relevant disorders: Neonatal diabetes (diagnosed less than 6 months), Neonatal diabetes diagnosed <6 months, Diabetes - neonatal onset, R143 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Neonatal diabetes - small panel Relevant disorders: R143.1, Neonatal diabetes Version 1.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 26 Sept 2023
Nephrocalcinosis or nephrolithiasis Relevant disorders: Renal tract calcification (or Nephrolithiasis or nephrocalcinosis), Renal tract calcification (or Nephrolithiasis/nephrocalcinosis), R256 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Neurofibromatosis type 1 (GMS) Relevant disorders: R222 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Neurological ciliopathies Version 7.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset, Paediatric disorders, Rare multisystem ciliopathy Super panel Signed Off on 6 May 2026
Neurological segmental overgrowth Version 3.4 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cerebral malformation, Paediatric disorders Signed Off on 6 May 2026
Neuronal ceroid lipofuscinosis Relevant disorders: R231 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Neuronal ceroid lipofuscinosis type 2 Relevant disorders: R271 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Neutropaenia consistent with ELANE mutations Relevant disorders: R313 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome Relevant disorders: R214 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
NICE approved PARP inhibitor treatment Relevant disorders: R444 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Oct 2024
Niemann Pick disease type C Relevant disorders: R380 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Niemann-Pick disease type A or B Relevant disorders: R282 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Nijmegen breakage syndrome Relevant disorders: R259.2 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Non-acute porphyrias Relevant disorders: R168 Version 1.4 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 15 Oct 2020
Ophthalmological ciliopathies Version 6.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders, Rare multisystem ciliopathy Super panel Signed Off on 6 May 2026
Optic neuropathy Relevant disorders: Inherited optic neuropathies, R41 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Osteogenesis imperfecta Relevant disorders: Osteogenesis Imperfecta, R102 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Osteopetrosis Relevant disorders: R104.4 Version 2.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Other rare neuromuscular disorders Relevant disorders: Neuromuscular disorders, R381 Version 31.1 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Ovarian cancer pertinent cancer susceptibility Relevant disorders: Ovarian Version 2.0 Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off Signed Off on 22 Mar 2023
Paediatric disorders Relevant disorders: Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R27 Version 75.1 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Paediatric disorders - additional genes Version 8.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders Signed Off on 6 May 2026
Paediatric motor neuronopathies Version 3.13 Panel Types: Rare Disease 100K, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders Signed Off on 6 May 2026
Paediatric or syndromic cardiomyopathy Relevant disorders: Cardiomyopathies - including childhood onset, R135 Version 8.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Paediatric pseudo-obstruction syndrome Relevant disorders: R438 Version 2.5 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Palmoplantar keratodermas Relevant disorders: R166 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Pancreatitis Relevant disorders: R175 Version 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
Paroxysmal central nervous system disorders Relevant disorders: Paroxysmal neurological disorders, pain disorders and sleep disorders, R66 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Peutz Jeghers Syndrome Relevant disorders: R212 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Phenylketonuria Relevant disorders: R283 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Pigmentary skin disorders Relevant disorders: R236 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Pituitary hormone deficiency Relevant disorders: R159 Version 4.6 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Pneumothorax - familial Relevant disorders: Familial Pneumothorax, Familial Primary Spontaneous Pneumothorax, R190 Version 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
POLG-related disorder Relevant disorders: R315 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Polycystic liver disease Relevant disorders: Polycystic liver disease interim, R173 Version 1.26 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Possible mitochondrial disorder - nuclear genes Relevant disorders: R63 Version 5.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Primary hyperaldosteronism - KCNJ5 Relevant disorders: R344 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Primary immunodeficiency or monogenic inflammatory bowel disease Relevant disorders: Primary immunodeficiency disorders, A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency, SCID, Primary immune disorder, Primary immunodeficiency, A-gammaglobulinaemia, Agammaglobulinaemia, hypo-gammaglobulinaemia, hypogammaglobulinemia, immune deficiency syndromes, Severe combined immunodeficiency, Congenital neutopenia, Familial haemophagocytic lymphohistiocytic disorders, Familial hemophagocytic lymphohistiocytic disorders, PID, Sepsis, Disseminated non-tuberculous mycobacterial infection, Primary immunodeficiency, R15 Version 9.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Primary lymphoedema Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease, R136 Version 5.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Primary pigmented nodular adrenocortical disease Relevant disorders: R160 Version 1.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 19 Feb 2020
Progressive cardiac conduction disease Relevant disorders: R328 Version 2.15 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Proteinuric renal disease Relevant disorders: R195 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Pseudoxanthoma elasticum Relevant disorders: R420 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
PTEN Hamartoma Tumour Syndrome Relevant disorders: R213, PTEN Hamartoma Tumor Syndrome Version 1.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Pulmonary alveolar microlithiasis Relevant disorders: R426 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Pulmonary arterial hypertension Relevant disorders: PAH, R188 Version 4.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Pulmonary fibrosis familial Relevant disorders: R421 Version 1.9 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Pyruvate dehydrogenase (PDH) deficiency Relevant disorders: R316 Version 1.39 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Rare anaemia Relevant disorders: R92 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Rare genetic inflammatory skin disorders Relevant disorders: R332 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Rare multisystem ciliopathy Super panel Version 22.1 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Rare syndromic craniosynostosis or isolated multisuture synostosis Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, Craniosynostosis, R100 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Apr 2025
Renal ciliopathies Version 5.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cystic renal disease, Paediatric disorders, Rare multisystem ciliopathy Super panel, Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Renal tubulopathies Relevant disorders: Renal tubular acidosis, R198 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Respiratory ciliopathies including non-CF bronchiectasis Relevant disorders: R189 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Retinal disorders Relevant disorders: Posterior segment abnormalities, Cone Dysfunction Syndrome, Developmental macular and foveal dystrophy, Inherited macular dystrophy, Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy, Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy, Rod Dysfunction Syndrome, Rod-cone dystrophy, Familial exudative vitreoretinopathy, Familial exudative retinopathy, Sorsby retinal dystrophy, Doyne retinal dystrophy, R32 Version 9.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Retinoblastoma Relevant disorders: R219 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Rhabdomyolysis and metabolic muscle disorders Version 6.0 Panel Types: Rare Disease 100K, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hypotonic infant, Other rare neuromuscular disorders Signed Off on 6 May 2026
Sandhoff disease Relevant disorders: R285 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Sarcoma of possible germline origin Relevant disorders: R457 Version 1.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Sarcoma susceptibility Version 1.2 Panel Types: GMS Cancer Germline Virtual, GMS signed-off Signed Off on 18 Feb 2020
SCID with features of gamma chain deficiency Relevant disorders: R235 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Segmental or atypical neurofibromatosis type 1 testing Relevant disorders: R376 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Segmental overgrowth disorders - Deep sequencing Relevant disorders: Regional overgrowth disorders, Segmental overgrowth disorders, R110 Version 5.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Severe combined immunodeficiency with adenosine deaminase deficiency Relevant disorders: R16 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Severe combined immunodeficiency with PNP deficiency Relevant disorders: R234 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Severe early-onset obesity Relevant disorders: Significant early-onset obesity with or without other endocrine features and short stature, Significant early-onset obesity +/- other endocrine features and short stature, R149 Version 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Severe insulin resistance and lipodystrophy syndromes Relevant disorders: Lipodystrophy - childhood onset, R158 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Severe microcephaly Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly, R88 Version 9.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Short QT syndrome Relevant disorders: R130 Version 3.16 Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cardiac arrhythmias, Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 6 May 2026
Short stature - SHOX deficiency Relevant disorders: R52 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Sickle cell, thalassaemia and other haemoglobinopathies Relevant disorders: R93, Thalassaemia and other haemoglobinopathies Version 2.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing Relevant disorders: R361, Haemoglobinopathy trait or carrier testing Version 2.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Sitosterolaemia Relevant disorders: R323 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Skeletal ciliopathies Version 7.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders, Rare multisystem ciliopathy Super panel Signed Off on 6 May 2026
Skeletal dysplasia Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104 Version 9.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders Signed Off on 6 May 2026
Skeletal muscle channelopathy Relevant disorders: R76, Myotonia congenita Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Smith-Lemli-Opitz syndrome Relevant disorders: R270 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Spinal muscular atrophy type 1 rare mutation testing Relevant disorders: R71 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Sporadic aniridia Relevant disorders: Aniridia, R38 Version 3.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Stickler syndrome Relevant disorders: R45 Version 4.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Structural eye disease Relevant disorders: R36 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 6 May 2026
Subcutaneous panniculitis T-cell lymphoma (SPTCL) Relevant disorders: R424 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Sudden unexplained death or survivors of a cardiac event Relevant disorders: Molecular autopsy, Sudden cardiac death, R138 Version 23.1 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Syndromic and non syndromic craniosynostosis involving midline sutures Relevant disorders: R416 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Tay-Sachs disease Relevant disorders: R286 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Thanatophoric dysplasia Relevant disorders: R25 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Thiamine metabolism dysfunction syndrome 2 Relevant disorders: R395 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Thoracic aortic aneurysm or dissection (GMS) Relevant disorders: Thoracic aortic aneurysm and dissection, R125 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Thrombocythaemia Relevant disorders: R406 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Thrombophilia with a likely monogenic cause Relevant disorders: Thrombophilia, R97 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Tuberous sclerosis Relevant disorders: R228 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Tubulointerstitial kidney disease Relevant disorders: R202 Version 3.32 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Unexplained death in infancy and sudden unexplained death in childhood Relevant disorders: R441 Version 23.1 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 6 May 2026
Unexplained young onset end-stage renal disease Relevant disorders: Unexplained paediatric onset end-stage renal disease, R257 Version 13.1 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off Signed Off on 6 May 2026
Unexplained young onset end-stage renal disease - additional genes Version 2.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Unexplained young onset end-stage renal disease Signed Off on 6 May 2026
Variegate porphyria Relevant disorders: R170 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Vascular skin disorders Relevant disorders: R326 Version 2.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Apr 2025
Von Hippel Lindau syndrome Relevant disorders: R225 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
von Willebrand disease Relevant disorders: R121 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
White matter disorders and cerebral calcification - narrow panel Version 8.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Childhood onset leukodystrophy, Paediatric disorders Signed Off on 6 May 2026
Wilson disease Relevant disorders: R172 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Wiskott-Aldrich syndrome Relevant disorders: R20 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Relevant disorders: Cockayne and Xeroderma Pigmentosum-like disorders, Cockayne syndrome, Xeroderma Pigmentosum-like disorders, XP-like disorders, R227 Version 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023