Genetic tests offered by MEL

Targeted Next-Generation Sequencing to test for MODY/ Monogenic diabetes panel

Till date around 31 genes have been reported to be implicated in monogenic forms of diabetes (Maturity Onset Diabetes of the Young, Neonatal diabetes & syndromic forms). Depending on the gene implicated the patients present with severe phenotype, such as pancreatic agenesis with neonatal diabetes and exocrine insufficiency, or a milder phenotype, with diabetes onset during adolescence or adulthood. A confirmed diagnosis is essential and would aid in providing appropriate therapy in a proportion and for genetic counselling and plan the course of management.

1. ABCC8  2. AKT2 3. BLK 4.CEL 5.CISD2 6.CP  7.EIF2AK3, 8.GATA6 9.GLUD1 10. HADH 11.HNF1A 12.HNF1B, 13.HNF4A 14.IER3IP1 15.INS 16.INSR 17. KCNJ11 18. KLF11 19.NEUROG3 20.PAX4 21.PDX1 22.PTF1A  23.RFX6 24.SLC2A2 25.WFS1 26.ZFP57 27.GCK 28.GLIS3  29.NEUROD1 30.FOXP3 31.APPL1

Hyperinsulinemic Hypoglycemia: 10 gene NGS panel include ABCC8, KCNJ11, GCK, HADH, HNF1A, HNF4A, INSR, GLUD1, SLC16A1, UCP2

Kallmann Syndrome: 4 gene NGS panel include KAL1, FGFR1, PROKR2, PROK2

PENS (Paediatric Endo New born screening) panel: Targeted NGS based screening of genes implicated in various inborn errors of metabolism and also in paediatric endocrine-related conditions.

This panel designed in MEL include a 126 gene panel covering the following conditions.

  • Amino Acid Disorders
  • Argininemia
  • Argininosuccinic aciduria
  • Beta-Ketothiolase deficiency
  • Biotinidase Deficiency
  • Carnitine palmitoyltransferase I deficiency
  • Carnitine palmitoyltransferase II deficiency
  • Carnitine uptake defect
  • Carnitine-acylcarnitine translocase deficiency
  • Citrullinemia type I
  • Citrullinemia type II
  • Cystic fibrosis
  • isorders of biopterin regeneration
  • Endocrine Disorder
  • atty Acid Oxidation Disorder
  • Galactosemia
  • Glutaric acidemia type I
  • Glutaric acidemia type II
  • Hearing Loss
  • Hemoglobin Disorder
  • Homocystinuria
  • Hypermethioninemia
  • Isovaleric acidemia
  • Kallmann Syndrome
  • Maple syrup urine disease
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Multiple carboxylase deficiency
  • Phenylketonuria
  • Pompe disease
  • Primary Congenital Hypothyroidism
  • Propionic acidemia
  • Severe combined immunodeficiency
  • Short-chain acyl-CoA dehydrogenase deficiency
  • Trifunctional protein deficiency
  • Tyrosinemia type I
  • Tyrosinemia type II
  • Tyrosinemia type III
  • Very long-chain acyl-CoA dehydrogenase def
  • X-linked Adrenoleukodystrophy
  • X-linked severe combined immunodeficiency

Hereditary Hemorrhagic Telangiectasia: 3 gene NGS panel include ENG, ACVRL1 and SMAD4 genes.

Tumoral Calcinosis: 3 gene NGS panel include GALNT3, FGF23 and KL genes.

NGS based mitochondrial genome sequencing – has shown to be very sensitive in picking up the heteroplasmies with <5% positive for mutations.

  • BRCA1 185delAG screening.
  • CAH eight hot spot screening.
  • CAH-NGS based five gene panel screening.
  • Lipodystrophy and Insulin resistance panel.
  • NGS based BRCA1 AND BRCA2 screening.

Dr. Aaron Chapla,
MSc Medical Biochemistry, PhD Biochemistry
Scientist - Molecular Endocrinology Laboratory,
Lecturer/Assistant Professor
Department of Endocrinology, Diabetes and Metabolism,
Christian Medical College, Vellore, 632004, India. /

Dr. Nihal Thomas
MD., MNAMS, DNB(Endo), FRACP(Endo), FRCP(Edin), FRCP(Glasg) , FRCP (London), FACP, Ph.D (Copenhagen)
Senior Professor,
Department of Endocrinology, Diabetes & Metabolism,
Christian Medical College, Vellore- 632004, Tamilnadu.