Services

Reproductive Genetics Program

Molecular Genetics

The human genome contains DNA which is the hereditary material in humans. Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people. The order, or sequence, of these bases determines the information available for building and maintaining an organism, similar to the way in which letters of the alphabet appear in a certain order to form words and sentences.

Molecular genetic testing is a branch of testing dedicated to identifying variations at the nucleotide level such as point mutations, deletions, insertions, copy number changes, methylation defects, and triplet repeat expansion.

Mutations such as these, are inherited in different patterns. These tests help diagnose a genetic disorder which can further guide the clinicians in making treatment and management decisions. It also helps determine the inheritance patterns of the disorder which would subsequently guide clinicians in ascertaining the recurrence risk in all pregnancies.

Clinical Information

This helps identify

  • Single gene defects such as Beta Thalassemia (most common in the Indian population),
  • Copy number changes such as in Duchenne/Becker Muscular Dystrophy, Spinal Muscular Atrophy
  • Methylation changes causing imprinting disorders such as in Prader Willi/ Angelman syndrome
  • Triplet repeat expansion such as in Huntigton’s disease, Friagile X syndrome