Just like routine tests, carrier screening is performed on a blood sample to analyze the DNA sequence for mutations (variations that may be harmful). These mutations albeit minute are capable of manifesting a genetic anomaly/disease. 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.

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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 a 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 the X chromosomes of males will put them at a greater likelihood to be affected. Females would only be carriers of such mutations.

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