This screening identifies potential genetic disorders in couples who may be carriers and detects disease-causing mutations across 2000 genes. It covers conditions that:
Carrier screening empowers couples to proactively plan their family by identifying potential genetic risks.
Carrier screening is recommended for couples planning or currently expecting, especially those with a history of consanguinity, famalial genetic conditions, or ethnic predispositions to specific disorders. It’s also vital as a pretest for pre-implantation genetic diagnosis, ensuring healthy embryo selection. Essentially, it helps couples understand their genetic risks before or during pregnancy.
Methodology: | NGS |
Sample Type | Container | Shipping Conditions | Max Transit Time |
---|---|---|---|
Blood | EDTA tube | 4–8 °C | 72 hrs |
Saliva | Saliva Collection Kit | 4–8 °C | 48 hrs |
Cheek/Buccal Swab | Swab Collection Kit | 4–8 °C | 48 hrs |
Dry Blood Spot | Whatmann Paper | RT | 72 hrs |
21 Days