Genetic tests offered by MEL

Next-generation sequencing panels and single gene tests in Molecular Endocrinology Laboratory (MEL), CMC, Vellore

B1029 ACUTE PORPHYRIA NGS PANEL
B1037 AIP GENE FOR ACROMEGALY
B1043 ALMS 1 GENE FOR ALSTROM SYNDROME
B1039 CDKN1C GENE SEQUENCING FOR BECKWITH WIEDEMANN SYNDROME
B1044 DCAF17 GENE FOR WOODHOUSE-SAKATI SYNDROME
B1025 FAMILY SCREENING OF MUTATION POSITIVE SUBJECTS
B1035 HEREDITARY HAEMORRHAGIC TELANGIECTASIA NGS3 GENE PANEL
B1032 HYPERINSULINEMIC HYPOGLYCEMIA NGS 10 GENE PANEL
B1034 KALLMANN SYNDROME NGS 4 GENE PANEL
B1022 LIPODYSTROPHY AND INSULIN RESISTANCE NGS 6 GENE PANEL
B1020 MODY - GENE SCREENING (MODY 1 - 13 genes)
B1031 MONOGENIC DIABETES NGS GENE PANEL (17 genes which are not included in MODY gene panel)
B1036 NGS BASED GENE PANEL (BRCA1 & 2)
B1028 OSTEOGENESIS IMPERFECTA NGS 8 GENE PANEL
B1047 PAX6 GENE FOR ANIRIDIA/GILLESPIE SYNDROME/PETER ANAMOLY
B1038 PHEX GENE SEQUENCING X-LINKED HYPOPHOSPATEMIC RICKETS
B1042 PRKAR1A GENE SEQUENCING FOR CARNEY COMPLEX
B1045 SLC19A2 GENE FOR THIAMINE METABOLISM DYSFUNCTION SYNDROME
B1040 SLC29A3 GENE SEQUENCING FOR H - SYNDROME
B1041 SPINK 1 GENE FOR FIBRO CALCIFIC PANCREATIC DIABETES
B1033 TUMORAL CALCINOSIS NGS 3 GENE PANEL
B1046 UGT1A1 GENE FOR CRIGLER NAJJAR SYNDROME