Genomics England

302 panels

Panel
302 panels
Acute intermittent porphyria Relevant disorders: R169 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Acute rhabdomyolysis Relevant disorders: R419 Version 1.7 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 31 May 2023
Adult onset dystonia, chorea or related movement disorder Relevant disorders: Adult onset movement disorder, R56 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
Adult onset hereditary spastic paraplegia Relevant disorders: Hereditary spastic paraplegia - adult onset, R60 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
Adult onset leukodystrophy Relevant disorders: White matter disorders - adult onset, R62 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
Adult onset neurodegenerative disorder Relevant disorders: Neurodegenerative disorders - adult onset, R58 Version 7.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Oct 2024
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
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 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
APC associated Polyposis Relevant disorders: R414 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
APOL1 kidney donor testing Relevant disorders: R446 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Oct 2024
Arrhythmogenic right ventricular cardiomyopathy Relevant disorders: Arrhythmogenic cardiomyopathy, R133 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: Sudden unexplained death or survivors of a cardiac event, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 30 Oct 2024
Arthrogryposis Relevant disorders: R83 Version 8.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Oct 2024
Ataxia and cerebellar anomalies - narrow panel Version 7.0 Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Signed Off on 30 Oct 2024
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 3.4 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 30 Oct 2024
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 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 1 May 2024
Autosomal recessive primary hypertrophic osteoarthropathy Relevant disorders: R167 Version 1.5 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 11 Nov 2020
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 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
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 6.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Oct 2024
Bleeding and platelet disorders Relevant disorders: R90 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 3.11 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 30 Oct 2024
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 13.4 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 22 Mar 2023
Cardiac arrhythmias - additional genes Version 3.0 Panel Types: Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cardiac arrhythmias Signed Off on 22 Mar 2023
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 5.0 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 30 Oct 2024
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 15.3 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 30 Oct 2024
Cerebral vascular malformations Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease, R336 Version 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 22 Mar 2023
Childhood onset dystonia, chorea or related movement disorder Relevant disorders: Childhood onset dystonia or chorea or related movement disorder, R57 Version 6.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Oct 2024
Childhood onset hereditary spastic paraplegia Relevant disorders: Hereditary spastic paraplegia - childhood onset, R61 Version 7.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Oct 2024
Childhood onset leukodystrophy Relevant disorders: White matter disorders - childhood onset, R109 Version 26.6 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 30 Oct 2024
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, R359 Version 4.0 Panel Types: Rare Disease 100K, GMS Rare Disease, GMS Cancer Germline Virtual, GMS signed-off Signed Off on 22 Mar 2023
Cholestasis Relevant disorders: R171 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 6.3 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 30 Oct 2024
Cleidocranial Dysplasia Relevant disorders: R415 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
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 1.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 13 Feb 2020
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 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Nov 2022
Congenital disorders of glycosylation Relevant disorders: Congential disorders of glycosylation Version 6.7 Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Signed Off on 30 Oct 2024
Congenital fibrosis of the extraocular muscles Relevant disorders: R46 Version 1.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 3 Mar 2020
Congenital hyperinsulinism Relevant disorders: Hyperinsulinism, R144 Version 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 22 Mar 2023
Congenital hypothyroidism Relevant disorders: Congenital hypothyroidism or thyroid agenesis, R145 Version 2.2 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 25 Feb 2020
Congenital muscular dystrophy Relevant disorders: R79 Version 5.0 Panel Types: Rare Disease 100K, 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 30 Oct 2024
Congenital myaesthenic syndrome Relevant disorders: Congenital myaesthenia, Congenital myasthenia, R80 Version 4.8 Panel Types: Rare Disease 100K, 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 30 Oct 2024
Congenital myopathy Relevant disorders: R81 Version 5.0 Panel Types: Rare Disease 100K, 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 30 Oct 2024
Corneal dystrophy Relevant disorders: Corneal dystrophies, R262 Version 3.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 7.0 Panel Types: Rare Disease 100K, GMS Rare Disease, 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 30 Oct 2024
Cystic renal disease Relevant disorders: Cystic renal disease - PKD1, R193 Version 10.3 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 30 Oct 2024
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 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
DDG2P Version 5.0 Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders Signed Off on 30 Oct 2024
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 4.5 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 1 May 2024
Dilated and arrhythmogenic cardiomyopathy Relevant disorders: Dilated cardiomyopathy - adult and teen, R132 Version 2.32 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 30 Oct 2024
Distal myopathies 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 30 Oct 2024
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 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, Unexplained death in infancy and sudden unexplained death in childhood Signed Off on 30 Oct 2024
Ectodermal dysplasia Relevant disorders: R163 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Elastin-related phenotypes Relevant disorders: R140 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Endocrine neoplasia Relevant disorders: Endocrine neoplasms, R217 Version 3.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 3.2 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Nov 2022
Familial hypoparathyroidism Relevant disorders: Familial or syndromic hypoparathyroidism, R153 Version 2.14 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 1 May 2024
Familial melanoma Relevant disorders: R254 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
Familial rhabdoid tumours Relevant disorders: Rhabdoid tumour predisposition, R358 Version 1.9 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
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 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 20 Dec 2023
Fetal anomalies Relevant disorders: R21, Fetal anomalies with a likely genetic cause, Fetal anomalies with a likely genetic cause - non urgent, R412 Version 5.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Oct 2024
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 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 4.0 Panel Types: Cancer Germline 100K, GMS Cancer Germline Virtual, GMS signed-off Signed Off on 22 Mar 2023
Haematuria Relevant disorders: Alport syndrome, Familial haematuria, R194 Version 2.14 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 30 Oct 2024
Haemoglobinopathy trait or carrier testing Relevant disorders: R361 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
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 alpha tryptasaemia Relevant disorders: R436 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 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 19.3 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 30 Oct 2024
Hereditary ataxia with onset in adulthood Relevant disorders: Hereditary ataxia - adult onset, R54 Version 7.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Oct 2024
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 2.0 Panel Types: Rare Disease 100K, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 6.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Oct 2024
Hereditary systemic amyloidosis Relevant disorders: Amyloidosis, R204 Version 1.22 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 30 Oct 2024
Hirschsprung disease Relevant disorders: R177 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Holoprosencephaly - NOT chromosomal Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly, R85 Version 5.1 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cerebral malformation Signed Off on 30 Oct 2024
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 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Nov 2022
Hypertrophic cardiomyopathy Relevant disorders: Hypertrophic cardiomyopathy - teen and adult, HCM, R131 Version 4.16 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 30 Oct 2024
Hypogonadotropic hypogonadism (GMS) Relevant disorders: Hypogonadotropic hypogonadism idiopathic, R148 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 22 Mar 2023
Hypophosphataemia or rickets Relevant disorders: R154 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Nov 2022
Hypotonic infant Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant with a likely central cause, R69 Version 38.7 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 30 Oct 2024
Ichthyosis and erythrokeratoderma Relevant disorders: R165 Version 3.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 2.5 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 12 Apr 2023
Inherited MMR deficiency (Lynch syndrome) Relevant disorders: R210 Version 1.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 4 Mar 2020
Inherited ovarian cancer (without breast cancer) Relevant disorders: Familial ovarian cancer, R207 Version 4.0 Panel Types: Rare Disease 100K, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Inherited pancreatic cancer Relevant disorders: R367 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
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 3.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
Inherited polyposis and early onset colorectal cancer - germline testing Relevant disorders: Inherited polyposis, R211 Version 3.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
Inherited predisposition to acute myeloid leukaemia (AML) Relevant disorders: R347 Version 3.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Inherited predisposition to GIST Relevant disorders: R363 Version 1.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 4 Mar 2020
Inherited prostate cancer Relevant disorders: R430 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Inherited renal cancer Relevant disorders: R224 Version 1.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 4 Mar 2020
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 8.0 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 30 Oct 2024
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 2.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 3.9 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 1 May 2024
Leber hereditary optic neuropathy Relevant disorders: R41.3, R42.1 Version 2.5 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 7.0 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 30 Oct 2024
Limb disorders Version 6.2 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 30 Oct 2024
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Relevant disorders: Limb girdle muscular dystrophy, R82 Version 4.37 Panel Types: Rare Disease 100K, 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 30 Oct 2024
Lipodystrophy - childhood onset Relevant disorders: R158 Version 4.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 22 Mar 2023
Long QT syndrome Relevant disorders: Long QT, R127 Version 3.9 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 30 Oct 2024
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 3.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Malformations of cortical development Version 7.0 Panel Types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cerebral malformation Signed Off on 30 Oct 2024
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 3.4 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 30 Oct 2024
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 3.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 3.20 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 1 May 2024
Mitochondrial disorder with complex V deficiency Relevant disorders: R357 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Mitochondrial disorders Relevant disorders: Lactic acidosis, All recognised syndromes and those with suggestive features 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: Childhood onset leukodystrophy Signed Off on 30 Oct 2024
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 2.2 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 25 Feb 2020
Monogenic hearing loss Relevant disorders: Hearing loss, Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), Non-syndromic hearing loss, R67 Version 4.57 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 30 Oct 2024
Monogenic short stature Relevant disorders: R453 Version 1.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
Mosaic skin disorders - deep sequencing Relevant disorders: R327 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
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 1.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
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 5.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 7 Aug 2024
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 4.16 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 30 Oct 2024
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 5.0 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 30 Oct 2024
Neurological segmental overgrowth Version 3.0 Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Cerebral malformation Signed Off on 30 Oct 2024
Neuronal ceroid lipofuscinosis Relevant disorders: R231 Version 2.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 4.5 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 30 Oct 2024
Optic neuropathy Relevant disorders: Inherited optic neuropathies, R41 Version 4.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Osteogenesis imperfecta Relevant disorders: Osteogenesis Imperfecta, R102 Version 4.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Osteopetrosis Relevant disorders: R104.4 Version 1.1 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 21 Sept 2020
Other rare neuromuscular disorders Relevant disorders: Neuromuscular disorders, R381 Version 26.5 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 30 Oct 2024
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 60.9 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 30 Oct 2024
Paediatric disorders - additional genes Version 6.0 Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Paediatric disorders Signed Off on 30 Oct 2024
Paediatric motor neuronopathies Version 3.8 Panel Types: Rare Disease 100K, 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 30 Oct 2024
Paediatric or syndromic cardiomyopathy Relevant disorders: Cardiomyopathies - including childhood onset, R135 Version 6.0 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 30 Oct 2024
Paediatric pseudo-obstruction syndrome Relevant disorders: R438 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Palmoplantar keratodermas Relevant disorders: R166 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Pituitary hormone deficiency Relevant disorders: R159 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 22 Mar 2023
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 3.105 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 1 May 2024
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 7.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Oct 2024
Primary lymphoedema Relevant disorders: Lymphatic Disorders, Meiges disease, Meige disease, Milroy disease, Lymphoedema distichiasis, Lipoedema disease, R136 Version 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Nov 2022
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 2.9 Panel Types: 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 30 Oct 2024
Proteinuric renal disease Relevant disorders: R195 Version 4.15 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 30 Oct 2024
Pseudoxanthoma elasticum Relevant disorders: R420 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
PTEN Hamartoma Tumor Syndrome Relevant disorders: R213 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
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 3.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
Pulmonary fibrosis familial Relevant disorders: R421 Version 1.3 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
Pyruvate dehydrogenase (PDH) deficiency Relevant disorders: R316 Version 1.2 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 17 Feb 2020
Rare anaemia Relevant disorders: R92 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Rare genetic inflammatory skin disorders Relevant disorders: R332 Version 3.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Rare multisystem ciliopathy Super panel Version 17.4 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 30 Oct 2024
Rare syndromic craniosynostosis or isolated multisuture synostosis Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, Craniosynostosis, R100 Version 5.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 1 May 2024
Renal ciliopathies Version 3.13 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 30 Oct 2024
Renal tubulopathies Relevant disorders: Renal tubular acidosis, R198 Version 4.18 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 30 Oct 2024
Respiratory ciliopathies including non-CF bronchiectasis Relevant disorders: R189 Version 3.10 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 1 May 2024
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 7.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Oct 2024
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 5.1 Panel Types: Rare Disease 100K, 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 30 Oct 2024
Sandhoff disease Relevant disorders: R285 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
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 3.3 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 22 Mar 2023
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 4.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
Severe microcephaly Relevant disorders: Primary Microcephaly - Microcephalic Dwarfism Spectrum, Severe microcephaly, R88 Version 7.0 Panel Types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off Signed Off on 30 Oct 2024
Short QT syndrome Relevant disorders: R130 Version 3.13 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 30 Oct 2024
Short stature - SHOX deficiency Relevant disorders: R52 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Sitosterolaemia Relevant disorders: R323 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
Skeletal ciliopathies Version 5.1 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 30 Oct 2024
Skeletal dysplasia Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104 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 30 Oct 2024
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 4.0 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
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, Sudden cardiac death PILOT, R138, R425 Version 19.73 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off Signed Off on 1 May 2024
Surfactant deficiency Relevant disorders: R192 Version 1.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 2 Mar 2020
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
Thalassaemia and other haemoglobinopathies Relevant disorders: R93 Version 2.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 7 Aug 2024
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 3.0 Panel Types: GMS Rare Disease Virtual, GMS signed-off Signed Off on 22 Mar 2023
Thrombocythaemia Relevant disorders: R406 Version 1.1 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Sept 2020
Thrombophilia with a likely monogenic cause Relevant disorders: Thrombophilia, R97 Version 2.2 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 22 Mar 2023
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 3.4 Panel Types: 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 30 Oct 2024
Unexplained death in infancy and sudden unexplained death in childhood Relevant disorders: R441 Version 16.6 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS signed-off Signed Off on 30 Oct 2024
Unexplained young onset end-stage renal disease Relevant disorders: Unexplained paediatric onset end-stage renal disease, R257 Version 7.10 Panel Types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off Signed Off on 30 Oct 2024
Unexplained young onset end-stage renal disease - additional genes Version 1.0 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 30 Oct 2024
Van der Woude syndrome Relevant disorders: R284 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 14 Sept 2023
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 1.3 Panel Types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off Signed Off on 15 Oct 2020
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 6.0 Panel Types: GMS Rare Disease, Component Of Super Panel, GMS signed-off Component of the following Super Panels: Childhood onset leukodystrophy Signed Off on 30 Oct 2024
Wilms tumour with features suggestive of predisposition Relevant disorders: R220 Version 1.0 Panel Types: GMS Rare Disease, GMS signed-off Signed Off on 30 Nov 2022
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