COUPLE CARRIER SCREENING
SAMPLE REQUIREMENT
Also refered to us – Preconception carrier screen (couples), Reproductive carrier screen expanded (couples), DNA transcription for intended couples
What Is Couple Carrier Screening?
Couple Carrier screening is a genetic test that identifies variants in genes in couples who are planning to conceive naturally or planning assisted reproduction. The results on Couple Carrier screening can provide alternative reproductive options. Couple Carrier screening during pregnancy can indicate and help decisions on prenatal diagnostic testing.
A First Step in Family Planning
Carrier screening assesses your risk of passing on certain genetic conditions to your children. This test is for anyone who is currently pregnant, considering pregnancy, or planning to become pregnant in the future.
Even without symptoms or a family history of disease, individuals may carry a risk of passing conditions on to their offspring. This test can illuminate that risk, leading to more informed decision-making and stronger preparation for your reproductive journey.
Components: This assay interrogates 787 genes and identifies carrier status for various inherited conditions in the couple planning pregnancy.
Leading the Way with NGS
- Next-generation sequencing (NGS) to detect SNVs and CNVs within the entire coding regions
- Analytical detection rate of 99% for most genes
- Custom bioinformatics methods to increase detection in technically challenging regions
- 2-3 week turnaround time
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Detecting more than 500 different mutations
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In-house multi-mapping tool developed to resolve pseudogene complications
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Including automatic reporting of AGG interruptions for premutation carriers, further refining risk level
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Including alpha thalassemia, beta thalassemia, and sickle-cell disease
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Including enhanced SMA (2+0) screening to identify increased risk for silent carrier status
TURN AROUND TIME (TAT)
No special preparation required.
Categories:
n.a – Where test price is not stated Contact lab for accurate price
NB: House call and special sample requirement charges may apply