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 22 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
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 
Pharmacogenomics DPD Deficiency 1 gene Screening for 4 SNPs of clinical relevance 5ml Whole Blood in EDTA Request 
Showing 22 items