Preconception Screening: Couples planning to start a family should undergo carrier screening to identify any potential genetic risks.
Premarital Screening: Individuals or couples planning marriage, particularly those from communities or ethnic groups with higher risks of genetic disorders, should consider screening.
Consanguineous Marriages: Couples who are related or from the same ethnic group have a higher risk of shared genetic mutations and should undergo carrier screening.
Couples with a History of Genetic Disorders or Pregnancy Loss: If there’s a family history of genetic disorders or previous pregnancies with Mendelian disorders, recurrent miscarriages, or infertility, carrier screening is strongly recommended.
Relatives of Known Carriers: Carrier screening is also essential for the partners and relatives of individuals already identified as carriers of genetic disorders.
🧬 Couple Carrier Screening Panels
Recessive Genetic Disorders:
Comprehensive screening for autosomal recessive and X-linked conditions
Carrier Status Identification:
Detection of pathogenic variants in both partners for the same condition
Reproductive Risk Assessment:
Combined analysis to assess risk of passing genetic conditions to offspring
Next Generation Sequencing (NGS) is used to analyze targeted genes associated with recessive genetic disorders. The test identifies pathogenic variants in genes that could be passed on to offspring when both partners are carriers of the same condition.