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Carrier screening (A screening test for once in a lifetime)

Carrier screening (A screening test for once in a lifetime)

carrier screening test is based on 12,125 genetic variants annotated as Pathogenic/Likely Pathogenic derived from 1,465 genes associated with 1,853 diseases. 

What is carrier screening?

Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. The goal of carrier screening 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.

  • An individual is a carrier of ~2.8 pathogenic variants on average
  • Approximately 1 in 4 (24%) individuals were carriers for at least 1 disorder and 1 in 20 (5.2%) were carriers for multiple disorders (of ~24000 individuals screened for 108 disorders).
  • 1 in 20 (5%) individuals (of 12,000 individuals screened for 3 disorders) were carriers, 88% had no previous family history and
  • 1 in 240 were carrier couples with increased risk of having a child with a disorder.(conditions: 1,853; genes: 1,465).

Report Timeline: 4 to 5 weeks

    ₹12,999.00Price
    Sales Tax Included
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    ©2022 by NerdGene Healthcare Private Limited

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