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Carrier screening provides you and your physician with information about your carrier status for genetic conditions that can be passed to your future children. Knowing one’s carrier status allows you to:
Every person is a carrier for an average of 1- 2 non-working genes that can cause severe genetic disorders. Carriers are healthy and do not typically have family history of disease. As a result, it is common for individuals to be unaware of their carrier status. Identifying one's carrier status is important while planning to have a baby as this has direct implications for the health of your child. If both parents are found to be carriers of the same disease, they have a 1 in 4 chance of having an affected baby (for autosomal recessive disorders) and may choose preconception or prenatal genetic testing to make informed decisions during pregnancy. The diagram below demonstrates the inheritance pattern of an autosomal recessive disorder.
Your genetic report is prepared and shared with you. Your genetic counselor will be available to discuss your results with you at a time convenient for you.
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