Genetic Tests

Karyotyping visualises all 46 chromosomes under a microscope and detects large-scale abnormalities (>5–10 Mb). Chromosomal Microarray (CMA) analyses copy number variations at a resolution 100× higher — detecting tiny deletions and duplications (sub-megabase) that karyotyping misses entirely. CMA is increasingly preferred for developmental delay, autism, and unexplained pregnancy loss.

Yes, strongly. Beta-thalassaemia has a carrier frequency of approximately 3–4% in Punjab and surrounding states. If both partners are carriers (beta-thalassaemia trait), there is a 25% chance with each pregnancy of having a child with severe thalassaemia major requiring lifelong transfusions. Pre-marital HPLC screening followed by molecular confirmation enables informed family planning decisions.

Non-Invasive Prenatal Testing (NIPT) analyses cell-free foetal DNA in maternal blood, with detection rates exceeding 99% for Down syndrome (trisomy 21) and false positive rates below 0.1%. This is significantly superior to the triple marker test (sensitivity ~69%) and quadruple screen. NIPT is recommended from 10 weeks gestation onwards for all pregnant women, particularly those ≥35 years or with a prior chromosomal pregnancy.

Your genes encode the enzymes that metabolise most medications. Variations in genes like CYP2D6 and CYP2C19 can make you a poor metaboliser (increased drug toxicity) or ultra-rapid metaboliser (reduced drug effect) for common medications including antidepressants, antiplatelets (clopidogrel), proton pump inhibitors, and certain chemotherapy agents. A pharmacogenomics panel can guide your doctor to prescribe the right drug at the right dose from the outset.

Insurance coverage for genetic testing varies by policy. BRCA testing is covered by some policies when there is a strong family history of breast/ovarian cancer. Prenatal testing (NIPT, karyotyping) is covered by some group health policies. We recommend checking your policy documents or contacting your insurer directly. Our team can provide detailed bills and clinical justification letters to support insurance claims.