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Oxford University Hospitals NHS Foundation Trust

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Services by Gene

 

Some services require a clinical proforma to accompany the sample - these can be requested from the DNA Laboratory office: 01865 225594 or are available to download here.

A - D

Gene Disorder
ACTC1 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
AIP Familial Isolated pituitary adenoma
AIRE Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APS1)
ALX3 Frontorhiny / frontonasal dysplasia type 1
ALX4 Parietal foramina
ANT1 Autosomal disorders of mitochondrial DNA maintenance
AP2S1 Familial hypocalciuric hypercalcaemia type 3 (FHH3)
APC Familial adenomatous polyposis (FAP)
AR Spinal and bulbar muscular atrophy (SBMA)
BMPR1A Hereditary mixed polyposis syndrome (HMPS), Juvenile polyposis syndrome (JPS)
BRCA1 Breast/ovarian cancer
BRCA2 Breast/ovarian cancer
C90RF72 Amyotrophic lateral sclerosis (ALS) / Motor neurone disease (MND)
CASR Autosomal dominant hypocalcaemia (ADH), Familial benign hypocalciuric hypercalcaemia (FBHH/FHH), Familial isolated hyperparathyroidism (FIHP), Neonatal severe hyperparathyroidism (NSHPT)
CDC73 Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP)
CDK4 Familial malignant melanoma
CDKN1A (p21) Multiple endocrine neoplasia type 1-like phenotype, Multiple endocrine neoplasia type 4 (MEN4)
CDKN1B (p27) Multiple endocrine neoplasia type 1-like phenotype, Multiple endocrine neoplasia type 4 (MEN4)
CDKN2A Familial malignant melanoma
CDKN2B (p15) Multiple endocrine neoplasia type 1-like phenotype, Multiple endocrine neoplasia type 4 (MEN4)
CDKN2C (p18) Multiple endocrine neoplasia type 1-like phenotype, Multiple endocrine neoplasia type 4 (MEN4)
CFTR CFTR-related disorders, Cystic Fibrosis
ChAT Congential myasthenic syndromes (CMS)
CHRNA1 Congenital myasthenic syndromes (CMS)
CHRNB1 Congenital myasthenic syndromes (CMS)
CHRND Congenital myasthenic syndromes (CMS)
CHRNE Congenital myasthenic syndromes (CMS)
CHRNG Congenital myasthenic syndromes (CMS)
ColQ Congenital myasthenic syndromes (CMS)
CSRP3 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
Cx32 (GJB1) X-linked Charcot-Marie-Tooth neuropathy type 1 (CMTX1)
DGUOK Autosomal disorders of mitochondrial DNA maintenance
DMD Xp21 muscular dystrophies (DMD/BMD)
DMPK Myotonic dystophy 1 (DM1)
Dok-7 Congenital myasthenic syndromes (CMS)
DSC2 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
DSG2 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
DSP Arrhythmogenic right ventricular cardiomyopathy (ARVC)

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E - N

Gene Disorder
EFNB1 Craniofrontonasal syndrome (CFNS)
FGF10 Aplasia of the lacrimal and salivary glands (ALSG), Lacrimoauriculodentodigital syndrome (LADD)
FGFR1 Craniosynostosis syndromes
FGFR2 Apert syndrome, Aplasia of the lacrimal and salivary glands (ALSG), Craniosynostosis syndromes, Lacrimoauriculodentodigital syndrome (LADD)
FGFR3 Achondroplasia (ACH), Aplasia of the lacrimal and salivary glands (ALSG), Craniosynostosis syndromes, Hypochondroplasia (HCH), Lacrimoauriculodentodigital syndrome (LADD)
FH Familial Paraganglioma /Phaeochromocytoma
FHL1 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
FLNA

Frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), Otopalatodigital syndrome types I and II (OPD1 and OPD2), X-linked chronic idiopathic pseudo-obstruction (CIIPX), X-Linked periventricular heterotopia dystrophy (PVNH)

FMR1 Fragile X syndrome, Fragile X associated tremor / Ataxia syndrome (FXTAS), Fragile X associated tremor / Ataxia syndrome (FXTAS), FMR1-related premature ovarian failure (POF)
GATA3 Hypoparathyroidism, deafness and/or renal dysplasia (HDR) syndrome
GCM2 Hypoparathyroidism
GDF5 Multiple synostoses syndrome type 2 (SYNS2), Proximal symphalangism (SYM1B), Brachydactyly types A2 and C (BDA2, BDC), Brachydactyly type A1C (BDA1C), Chondrodysplasia, Grebe type (AMDG), Acromesomelic dysplasia, Hunter-Thomsen type (AMDH), Fibular hypoplasia and complex brachydactyly (Du Pan syndrome)
GLA Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
GLI3 Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS)
GLUT1 GLUT1 Deficiency syndrome
GNA11 Autosomal Dominant Hypoparathyroidism (ADH2), Familial Benign Hypocalciuric Hypercalcaemia type 2 (FHH2)
GREM1 Hereditary mixed polyposis syndrome (HMPS)
H19 Russell-Silver syndrome
HD Huntington disease
HOXD13 Brachydactyly types D/E, Synpolydactyly
IGF2 Russell-Silver syndrome
JUP Arrhythmogenic right ventricular cardiomyopathy (ARVC)
KCNE1 Familial Long QT syndrome (Romano-Ward syndrome), Jewell and Lange-Neilson syndrome (JLNS)
KCNE2 Familial Long QT syndrome (Romano-Ward syndrome)
KCNH2 Familial Long QT syndrome (Romano-Ward syndrome)
KCNJ2 Andersen-Tawil syndrome
KCNQ1 Familial Long QT syndrome (Romano-Ward syndrome), Jewell and Lange-Neilson syndrome (JLNS)
LAMP2 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
LMNA Dilated cardiomyopathy (DCM)
MAX Familial paraganaglioma syndrome, Isolated phaeochromocytoma
MEN1 Familial isolated hyperparathyroidism (FIHP), Multiple endocrine neoplasia type 1
MET Hereditary papillary renal carcinoma (Met proto-oncogene)
MLH1 Lynch syndrome (Hereditary non-polyposis colorectal cancer (HNPCC))
MPV17 Autosomal disorders of mitochondrial DNA maintenance
MSH2 Lynch syndrome (Hereditary non-polyposis colorectal cancer (HNPCC))
MSH6 Lynch syndrome (Hereditary non-polyposis colorectal cancer (HNPCC))
MSX2 Parietal foramina
MtDNA Leber hereditary optic neuropathy (LHON), Mitochondrial DNA diseases (including CPEO, Kearns-Sayre syndrome, Pearson syndrome, MELAS, MERRF, NARP, maternally-inherited Leigh syndrome, MIDD and mtDNA depletion syndrome)
MutYH MutYH associated polyposis (MAP)
MYBPC3 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
MYH7 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Laing Myopathy
MYL2 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
MYL3 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
NOG Multiple synostoses syndrome type 1 (SYNS1), Proximal symphalangism type 1A (SYM1A), Tarsal-carpal coalition syndrome (TCC), Stapes ankylosis with broad thumbs and toes (SABTT), Brachydactyly type B2 (BDB2)

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O - Z

Gene Disorder
PEO1 Autosomal disorders of mitochondrial DNA maintenance
PKP2 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
PLN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
POLD1 Polymerase proofreading associated polyposis (PPAP)
POLE Polymerase proofreading associated polyposis (PPAP)
POLG Autosomal disorders of mitochondrial DNA maintenance
POLG2 Autosomal disorders of mitochondrial DNA maintenance
POLR1C Treacher Collins syndrome (TCS)
POLR1D Treacher Collins syndrome (TCS)
PRKAG2 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
PTEN Lhermitte-Duclos disease (LDD), PTEN hamartoma tumour syndromes
PTH Hypoparathyroidism
RAB23 Carpenter syndrome (ACPS II)
RAPSN Congential myasthenic syndromes (CMS)
REN Familial juvenile hyperuricemic nephropathy type 2 (FJHN2), REN associated kidney disease
RET Multiple endocrine neoplasia type 2 (MEN2A & MEN2B), Familial medullary thyroid carcinoma (FMTC), Isolated phaeochromocytoma, Familial Isolated Hyperparathyroidism (FIHP)
ROR2 Brachydactyly type B1 (BBD1), Recessive Robinow syndrome (RRS)
RRM2B Autosomal disorders of mitochondrial DNA maintenance
RUNX2 Cleidocranial dysplasia (CCD)
SCN10A Painful neuropathies / channelopathies
SCN11A Painful neuropathies / channelopathies
SCN5A Brugada syndrome, Familial Long QT syndrome (Romano-Ward syndrome)
SCN9A Painful neuropathies / channelopathies
SDHA Familial paraganaglioma syndrome (PGL5), Isolated phaeochromocytoma
SDHAF2 Familial paraganaglioma syndrome, Isolated phaeochromocytoma
SDHB Familial paraganaglioma syndrome (PGL4), Isolated phaeochromocytoma
SDHC Familial paraganaglioma syndrome (PGL3)
SDHD Familial paraganaglioma syndrome (PGL1), Isolated phaeochromocytoma
SLCA1 GLUT1 Deficiency syndrome
SMAD4 Juvenile polyposis syndrome (JPS), Myhre syndrome
SMN1 Spinal muscular atrophy (SMA)
SUCLA2 Autosomal disorders of mitochondrial DNA maintenance
SUCLG1 Autosomal disorders of mitochondrial DNA maintenance
TCOF1 Treacher Collins syndrome (TCS)
TK2 Autosomal disorders of mitochondrial DNA maintenance
TMEM127 Familial paraganaglioma syndrome, Isolated phaeochromocytoma
TMEM43 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
TNNI3 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
TNNT2 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
TP53 Li-Fraumeni Syndrome (TP53)
TPM1 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)
TRMU Reversible infantile respiratory chain deficiency
TRPA1 Painful neuropathies / channelopathies
TWIST1 Craniosynostosis syndromes
UBE3A Angelman syndrome
UMOD Familial juvenile hyperuricemic nephropathy type 1 (FJHN1), Familial uromodulin / Urate nephropathies, Medullary cystic kidney disease type 2 (MCKD2), Uromodulin associated kidney disease
VHL Isolated phaeochromocytoma, Von Hippel Lindau syndrome (VHL)
WNT5A Autosomal dominant robinow syndrome
ZRS Preaxial polydactyly type II (PPD2), Syndactyly type IV (SD4)

Last updated: 10-Oct-2017 by Claire Scott

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