Molecular Genetics and Our Current & Upcoming Services
Non-Invasive Prenatal Testing (NIPT)
A simple blood test for pregnant women that analyzes fetal DNA present in the mother’s blood to detect common chromosomal abnormalities such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13).
During pregnancy, a small amount of the baby’s DNA circulates in the mother’s blood. Using next-generation sequencing (NGS) technology, we analyze this DNA to check for extra or missing chromosomes.
Why is NIPT better?
Safe: No risk to the baby as it only requires a blood sample from the mother.
Accurate: More than 99% detection rate for Down syndrome.
Early detection: Can be done as early as 10 weeks of pregnancy.
Reduces unnecessary invasive tests like amniocentesis.
Comprehensive Onco-Gene Panel Testing
Purpose: A detailed genetic analysis of cancer-related genes to determine the risk, progression, and best treatment options for cancer patients.
Why is it important?
- Helps in early detection of hereditary cancers.
- Provides a genetic profile of a tumor, guiding doctors on the best targeted therapy (precision medicine).
- Predicts how aggressive the cancer might be and its likely response to treatment.
Whole Exome Sequencing (WES)
A test that examines the entire protein-coding region of a person’s DNA (exome) to identify disease-causing genetic mutations. Think of DNA as a huge book containing all the instructions to build and run our body. The exome is like the most important chapters that directly affect health. WES helps find spelling mistakes (mutations) in these chapters that might be causing diseases.
- Detects rare genetic disorders.
- Helps in identifying hereditary conditions.
- Guides personalized treatment plans.
