Before conceiving, it is useful to know if the parents are carriers for any recessive disorders that may manifest as disease in the progeny. The parents themselves may be perfectly healthy even if they are carriers. For the so-called autosomal recessive diseases, both parents being healthy carriers implies that each child has a 25% chance of being affected. For the so-called x-linked disorders, the healthy mother being a carrier implies that each male child has a 50% chance of being affected. Our carrier screening test can help identify if you and/or your spouse are carriers for key genomic variants that might affect your children, in which case, your doctor will be able to suggest various measures to control that risk.

Carrier risk screening genetic test can help determine any risk of AR or XR disorders, including the most prevalent ones such as Spinal Muscular Atrophy, Beta Thalassemia Sickle Cell Anaemia, Cystic Fibrosis, and Duchenne Muscular Dystrophy.

Once the baby is conceived there are a variety of genetic tests conducted on the DNA derived from the foetus to help detect any of the common disorders, related to l changes (additions, deletions, substitutions) in the chromosomes.

Our Mother Child Contamination (MCC) test helps differentiate between mother and child cells. Thereafter various chromosome-focussed genetic tests can be conducted to detect common disorders such as Trisomy and Aneuploidy.

There are thousands of other rare inherited disorders other than the ones detected by carrier risk screening or the common ones checked in the pre-natal stage. A pediatric specialist or a clinical geneticist will be able to identify key clinical features and prescribe various genetic tests if appropriate.

Most commonly, these tests will be our Clinical Exome or Whole Exome tests that sequence ~4500-20000 of genes covering all rare monogenic disorders and identify key causative genomic variants.