Why Consider a Reproductive Screening Test?
If your patient is thinking about starting a family, they may be interested in carrier screening, which will inform them about their risk of having a child with certain genetic conditions. With this knowledge in hand, couples can make informed decisions about reproductive planning.
More than 1 in 3 people were found to be a carrier of a recessively inherited disorder
Providing couples with information about carrier screening is a recommendation published by several international societies
What is included in the Blueprint Genetics Reproductive Test?
The Reproductive Screening test includes selected genes, which are associated with a number of autosomal recessive and X-linked conditions.
These include genes linked to:
1. Genetic conditions which are recommended to be included on screening tests by the ACMG/ACOG
2. Select serious childhood-onset conditions, some of which appear on newborn screening
3. Genetic conditions which are more common in individuals of Ashkenazi Jewish ancestry
Note: Blueprint Genetics screening panels, or screening tests, do not screen for all conditions and do not diagnose a disease or disorder. Based on results, screening tests may require follow-up medical and genetic counseling and other (non-genetic) testing.
Why Choose Blueprint Genetics’ Reproductive Tests?
- User-friendly report
- Both sequencing and deletion/duplication (copy number variant) analysis is performed
- Covers 461 genes
- Includes disease-associated non-coding and deep intronic variants (as reported in HGMD and ClinVar)
- Only variants classified as likely pathogenic and pathogenic based on a modified ACMG/AMP classification scheme will be reported
- Most results will be reported in 28 days
- Tests can be ordered and results viewed in Nucleus, our online platform
- DUO report for couples