Genetic Tests
Genetic testing laboratories/centres in India
Genes Tested on Research Basis
| Gene | Name of the disease | Contact info |
| AMH | Persistentmullerian duct syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| ANTXR2 | Infantile systemic hyalinosis/ Juvenile hyaline fibromatosis | girish.katta@manipal.edu |
| ARSA | Metachromatic leukodystrophy | ashwindalal@gmail.com |
| ARSB | Maroteaux-Lamy syndrome (MPS VI) | ashwindalal@gmail.com |
| ASPA | Canavan disease | ashwindalal@gmail.com |
| ATP7A | Occipital horn syndrome; SMA TYPE V | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| ATP-7A (Total exons=22) | Menkey kinky hair disease | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| BTD | Biotinidase deficiency | ashwindalal@gmail.com |
| CHST3 | CHST3 related disorder (SED- Omani) | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| CTSK (Total exons=8) | Pyknodysostosis | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| CYLD-1 | Brook Speigler syndrome (Cylindroma) | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| DLL3 | Spodylocostal dysostosis 1 | girish.katta@manipal.edu |
| DYT1 | Primary dystonia type I | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| ECEL-1 (Exons=18) | Arthrogryposis, distal-5D | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| EDA | Ectodermal dysplasia -X- linked | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| EMX2 (Total exons=3) | Schizencephaly | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| FBP1 | Fructose 1,6 bisphosphatase deficiency | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| FIG4 | YunisVaron | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| FLNA | Otopalatodigitalsyndrome (exon 3,4,5) | ashwindalal@gmail.com |
| FLNA | MelnickNeedles syndrome (exon22) | ashwindalal@gmail.com |
| GALNS | Morquio A syndrome | girish.katta@manipal.edu |
| GJA1 | OCDDD and HallermanStrieff syndrome | ashwindalal@gmail.com |
| GJA1 ,ODD | Oculodentodigital syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| GJB2 & GJB6 | Non-syndromic hearing loss | ashwindalal@gmail.com |
| GLA | Fabrydisease | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| GLB1 | Morquio B syndrome and GM1 gangliosidosis | girish.katta@manipal.edu |
| HES7 | Spodylocostal dysostosis 4 | girish.katta@manipal.edu |
| HGD | Alkaptonuria | medgen@cmcvellore.ac.in |
| HPGD | Pachydermoperiostosis | ashwindalal@gmail.com |
| IDS | Hunter syndrome (MPS II) | shubharaophadke@gmail.com; sgpgigenetics@gmail.com; ashwindalal@gmail.com |
| IDUA | Hurler syndrome (MPS I) | ashwindalal@gmail.com |
| LFNG | Spodylocostal dysostosis 3 | girish.katta@manipal.edu |
| MBTPS-2 | IFAP | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| MEFV | Familial Mediterranean fever (Common mutation) | ashwindalal@gmail.com |
| MESP2 | Spodylocostal dysostosis 2 | girish.katta@manipal.edu |
| MESP2 | Spodylothoracicdysostosis /Jarcho Levin syndrome | girish.katta@manipal.edu |
| MMP2 | Torg - Winchester syndrome | girish.katta@manipal.edu |
| NAGLU | Sanfilipo type B syndrome | ashwindalal@gmail.com |
| NEU1 | Sialidosis | ashwindalal@gmail.com |
| NLRP3 | Chronic infantile neurologic cutaneous articular syndrome | girish.katta@manipal.edu |
| NOTCH-2 | HajduCheney | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| NPHS1 (Only exon 10 and exon 18) | Congenital nephrotic syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| NPR2 (Total exons=22)/ GDF5 | Acromesomelic dysplasia | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| NSD1 | Sotos syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| PEX-7 (Exons=10) | Rhizomelicchondodysplasiapunctata | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| PRG4 | Camptodactyly-arthropathy-coxavara-pericarditis syndrome (Common mutation) | ashwindalal@gmail.com |
| PRICKLE | Progressive myoclonic epilepsy with ataxia | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| PSAP | Metachromatic leukodystrophy (SaposinB) | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| PTPN 11 | Noonan syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| RAB3GAP1 (Exons= 25) | Warburg micro syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| RMRP | Cartilage hair hypoplasia | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| ROR2 (Total exons=9) | Robinow syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| SGSH | Sanfilipotype A syndrome | ashwindalal@gmail.com |
| SKI | Shprintzen-Goldberg | shubharaophadke@gmail.com; sgpgigenetics@gmail.com; ashwindalal@gmail.com |
| SLC26A2 (DTDST) | Diastrophic dysplasia | ashwindalal@gmail.com |
| SLC29A3 | H Syndrome | ashwindalal@gmail.com |
| SMPD1 | Neimann pick disease | ashwindalal@gmail.com |
| SPINK5 | Netherton syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| SRCAP (Only exon 34) | Floating Harbor syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| TBX6 | Spodylocostal dysostosis 5 | girish.katta@manipal.edu |
| TNFRSF1A | TNF receptor-associated periodic fever syndrome (TRAPS) (Common mutation) | ashwindalal@gmail.com |
| TRPV4 | Familial digital arthropathy with brachydactyly | girish.katta@manipal.edu |
| TYMP (Exons=10) | Mitochondrial neurogastrointestinalencephalomyopathy (MNGIE) | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| UMOD (Total exons=10) | Hyperuricemic nephropathy, familial juvenile 1 | shubharaophadke@gmail.com; sgpgigenetics@gmail.com |
| VHL | Von HippelLindau syndrome | shubharaophadke@gmail.com; sgpgigenetics@gmail.com; ashwindalal@gmail.com |
| WISP3 | Progressive pseudorheumatoid dysplasia | girish.katta@manipal.edu |
IMPORTANT NOTE: SIAMG does not independently verify information submitted to the website ; it relies on submitters to provide information that is accurate and not misleading. SIAMG makes no endorsements of tests or laboratories listed in the website . Patients and consumers with specific questions about a genetic test should contact a health care provider or genetics professional
Does your offer tests on research basis? Please send your list to info@iamg.in and mark a copy to girishkatta@gmail.com
