Genomic Tests

Suggest a Genetic Test
If you are a clinician and you think your patients would enormously benefit from addition of a specific test as part of the GOMED programme, please let us know. [Suggest a Genetic Test]
Showing 68 items
ClassificationDisease / ConditionNo. of Gene(s)Description of the test availableSample RequirementReferral Request
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ClassificationDisease / ConditionNo. of Gene(s)Description of the test availableSample RequirementReferral Request
Opthalmology CORNEAL DYSTROPHY, MACULAR 1 Gene CHST6 Gene Sequencing 5ml Whole Blood in EDTA Request 
Endocrinology Congenital Hypothyroidism 1 Gene TPO Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology METACHROMATIC LEUKODYSTROPHY 1 Gene ARSA Gene Sequencing 5ml Whole Blood in EDTA  Request 
Unclassified NOONAN SYNDROME / RASOPATHY 1 Gene PTPN11 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology Transthyretin amyloidosis 1 Gene TTR Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology Hypermanganesemia with Dystonia 2 1 Gene SLC39A14 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Pharmacogenomics WARFARIN SENSITIVITY 1 Gene CYP2C9 Gene Variants 5ml Whole Blood in EDTA  Request 
Neurology ALZHEIMER'S DISEASE 1 Gene PSEN1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology PARKINSONS DISEASE 1 Gene PARK2 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology Myoclonic Epilepsy 1 Gene EPM2A Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology Myoclonic Epilepsy 1 Gene CSTB Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology DYSTONIA 1 Gene GCH1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology DYSTONIA 1 Gene GNAL Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology DYSTONIA 1 Gene THAP1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology Hereditary Spastic Paraplegia 1 Gene SPG4 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Nephrology Congenital Nephrotic Syndrome 1 Gene WT1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Nephrology Congenital Nephrotic Syndrome 1 Gene NPHS2 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Nephrology Congenital Nephrotic Syndrome 1 Gene NPHS1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Orthopaedics PAGET DISEASE 1 Gene TNFRSF11A Gene Sequencing 5ml Whole Blood in EDTA  Request 
Orthopaedics PAGET DISEASE 1 Gene SQSTM1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology Troyer syndrome 1 Gene SPART/SPG_20 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease 1 Gene SLC52A3 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology familial hemiplegic migraine, paroxysmal kinesigenic dyskinesia 1 Gene PRRT2 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Cardiology Andersen-Tawil syndrome, short QT syndrome, familial atrial fibrillation 1 Gene KCNJ2 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Lysosomal Storage Disease Mucopolysacharidosis TYPE 3, Sanfilippo syndrome A 1 Gene SGSH Gene Sequencing 5ml Whole Blood in EDTA  Request 
Lysosomal Storage Disease Mucopolysacharidosis TYPE 3, Sanfilippo syndrome B 1 Gene NAGLU Gene Sequencing 5ml Whole Blood in EDTA  Request 
Lysosomal Storage Disease Mucopolysacharidosis type 1, Hurler syndrome 1 Gene IDUA Gene Sequencing 5ml Whole Blood in EDTA  Request 
Lysosomal Storage Disease Mucopolysacharidosis type 2, Hunter syndrome 1 Gene IDS Gene Sequencing 5ml Whole Blood in EDTA  Request 
Lysosomal Storage Disease Mucopolysacharidosis TYPE 3, Sanfilippo syndrome C 1 Gene HGSNAT Gene Sequencing 5ml Whole Blood in EDTA  Request 
Lysosomal Storage Disease Mucopolysacharidosis TYPE 3, Sanfilippo syndrome D 1 Gene GNS Gene Sequencing 5ml Whole Blood in EDTA  Request 
Lysosomal Storage Disease Mucopolysacharidosis TYPE 4, Morquio syndrome B 1 Gene GLB1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Lysosomal Storage Disease Mucopolysacharidosis TYPE 4, Morquio syndrome A 1 Gene GALNS Gene Sequencing 5ml Whole Blood in EDTA  Request 
Lysosomal Storage Disease POMPE DISEASE 1 Gene GAA Gene Sequencing 5ml Whole Blood in EDTA  Request 
Endocrinology HYPOGONADOTROPIC HYPOGONADISM / KALLMANN SYNDROME 1 Gene FGFR1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Endocrinology HYPOGONADOTROPIC HYPOGONADISM / KALLMANN SYNDROME 1 Gene ANOS1/KAL1 5ml Whole Blood in EDTA  Request 
Skeletal Disorders OSTEOGENESIS IMPERFECTA 1 Gene COL1A1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Skeletal Disorders OSTEOGENESIS IMPERFECTA 1 Gene COL1A2 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology MYOTONIA CONGENITA 1 Gene CLCN1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology CONGENITAL MYAESTHENIA 1 Gene MUSK Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology CONGENITAL MYAESTHENIA 1 Gene DOK7 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Neurology AMYOTROPHIC LATERAL SCLEROSIS 1 gene SOD1 Gene Sequencing 5ml Whole Blood in EDTA  Request 
Pharmacogenomics BChE DEFICIENCY / Pharmacogenetic testing for Suxamethonium (Succinylcholine) 1 Gene Screening of SNPs of clinical relevance 5ml Whole Blood in EDTA Request 
Hearing WAARDENBURG SYNDROME 1 Gene SOX10 Gene Sequencing 5ml Whole Blood in EDTA Request 
Immunology OMENN SYNDROME 1 Gene RAG1 Gene Sequencing 5ml Whole Blood in EDTA Request 
Pharmacogenomics DPD DEFICIENCY / 5 FLUOROURACIL PHARMACOGENOMICS 1 gene Screening for 4 SNPs of clinical relevance 5ml Whole Blood in EDTA Request 
Hematology SICKLE CELL ANEMIA 1 Gene HBB Gene Sequencing 5ml Whole Blood in EDTA Request 
Hematology THALASSEMIA, BETA 1 Gene HBB Gene Sequencing 5ml Whole Blood in EDTA Request 
Gastroenterology PEUTZ-JEGHERS SYNDROME 1 Gene STK11 mutation screening by capillary sequencing 5ml Whole Blood in EDTA Request 
Dermatology LAMELLAR ICTHYOSIS 1 gene TGM1 mutation screening using capillary sequencing 5ml Whole Blood in EDTA Request 
Dermatology DOWLING-DEGOS DISEASE / GALLI-GALLI DISEASE 1 Gene Screening of (KRT5):c.10C>T mutation using capillary sequencing. 5ml Whole Blood in EDTA Request 
Leukodystophies MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 Gene MLC1, hot spot mutation screening (Vander Knaap mutation) 5ml Whole Blood in EDTA Request 
Leukodystrophies CANAVAN DISEASE 1 Gene ASPA gene sequencing 5ml Whole Blood in EDTA Request 
Leukodystrophies ALEXANDER DISEASE 1 Gene GFAP gene sequeuncing 5ml Whole Blood in EDTA Request 
Developmental ACHONDROPLASIA 1 gene FGFR3 hotspot sequencing 5ml Whole Blood in EDTA Request 
Development / Inborn Errors of Metabolism TAY SACHS DISEASE 1 Gene HEXA Gene sequencing of hotspots 5ml Whole Blood in EDTA Request 
Mitochondrial Disorders MELAS, MERRF, CPO,LEIGH DISEASE AD NARP  Available through Mitochondrial geneome sequencing or targeted region screening 5ml Whole Blood in ACD Request 
Other Neurological MYOTONIC DYSTROPHY 2 Genes CTG expansion mutation in DMPK genes, CCTG expansion mutation in ZNF9 5ml Whole Blood in EDTA Request 
Other Neurological NEURONAL-CEROID LIPOFUSCINOSIS (CLN1-CLN6) 1 Gene CLN6- coding region sequencing 5ml Whole Blood in EDTA Request 
Familial Stroke CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL 1 gene NOTCH3, Mutation screening of Exon 4,5 and 6 by sequencing 5ml Whole Blood in EDTA Request 
Motor Neuron Disease SPINO-BULBAR-MUSCULAR ATROPHY (SBMA) 1 Gene CAG expansion mutation in AR gene 5ml Whole Blood in EDTA Request 
Movement Disorders EPISODIC ATAXIAS 2 genes Episodic ataxia type-I and Type-( screening of known 20 mutations) in CACNA1A and KCNA1 5ml Whole Blood in EDTA Request 
Movement Disorders HUNTINGTON DISEASE  1 gene CAG expansion mutation, HTT 5ml Whole Blood in EDTA Request 
Movement Disorders FAMILIAL PARKINSON’S DISEASE 10 genes PANK2, PLA2G6, ATP13A2 5ml Whole Blood in EDTA Request 
Movement Disorders AUTOSOMAL RECESSIVE CEREBELLAR ATAXIAS 20 genes FRDA, Spastic ataxia of charlex Sanguinay(SACS), Ataxia with occulomotor apraxia type-2 (SETX) 5ml Whole Blood in EDTA Request 
Motor Neuron Disease AMYOTROPHIC LATERAL SCLEROSIS 8 genes Hexanucleotide repeat expansion, C9orf72 screening 5ml Whole Blood in EDTA Request 
Movement Disorders AUTOSOMAL DOMINANT CEREBELLAR ATAXIAS 35 genes SCA1-3, SCA6-8, SCA10, SCA12, SCA17, DRPLA, FXTAS, SCA31, SCA36, SCA5, SCA11, SCA14, SCA23, SCA28 5ml Whole Blood in EDTA Request 
Opthalmology GLAUCOMA 1A, PRIMARY OPEN ANGLE 1 Gene MYOC mutation screening 5ml Whole Blood in EDTA Request 
Opthalmology GLAUCOMA 3A, PRINMARY OPEN ANGLE, CONGENITAL,JUVENILE OR ADULT ONSET 1 Gene CYP1B1 mutations 5ml Whole Blood in EDTA Request 
Showing 68 items