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] |
Genomic Tests
Showing 69 items
Classification | Disease / Condition | No. of Gene(s) | Description of the test available | Sample Requirement | Referral Request |
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Sort | Sort | Sort | Sort | Sort | Sort |
Classification | Disease / Condition | No. of Gene(s) | Description of the test available | Sample Requirement | Referral Request |
---|---|---|---|---|---|
Neurology | SCA27B | 1 | GAA repeats in FGF14 | 5 ml blood | 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 69 items