Carrier Screening Test
Most comprehensive, once in a life time test for your family
Carrier screening is a genetic test used to determine if a healthy person is a carrier of a genetic disease. The objective is to help individuals understand their risks of having a child with a genetic disorder and review the range of options available to guide pregnancy and family planning. Just like routine tests, in carrier screening, we will take your blood sample. For this test, we analyze your DNA sequence for mutations (variations that may be harmful). These mutations albeit minute are capable of manifesting a genetic anomaly/disease. The genetic diseases occur based on the way these mutations are inherited. Most commonly inherited diseases are recessive in nature wherein, both healthy parents pass on a mutated gene copy to the child that makes both the copies affected and thereby causing the disease/anomaly. So, if both the parents are carriers of a mutation there is 25% likelihood that the offspring may inherit a diseased condition.
A routine pregnancy test won’t be able to detect these conditions. A carrier screening test report guide you of what genetic mutation you might pass on to your child. Although it is important to know that the science of genetic screening is not so straightforward, all humans have 22 pairs of autosomes and a pair of sex chromosomes. The mutations in 22 pairs of autosomes have mendelian autosomal inheritance pattern, that is males and females are equally likely at risk. The sex chromosomes, however, put males at a higher risk because they have a single X chromosome. Thus, a single defect in X chromosomes of males will put them at a greater likelihood to be affected. Females would only be carriers of such mutations. Carrier screening thus gives you a clear picture of your genetic make-up, we highly recommend it especially if you are planning a family.
Unlike infections which can be eliminated completely with proper treatment, a genetic condition can only be managed not treated or eliminated completely. In certain situations, the clinicians are not able to assess the situation and a genetic anomaly can be easily mistaken for an infection, a carrier screening thus gives you the advantage of knowing your genetic history beforehand.
The GeniqueSCREEN, a reliable carrier screening test developed at Genique Lifesciences screens 1465 genes for 1853 rare and common conditions caused by scientifically reported genetic mutations.