Blueprint Genetics offers two Variant Specific Testing products: Familial Variant Testing and Targeted Variant Testing. Please choose the appropriate test based on the clinical indication.
Choose Familial Variant Testing when there is a known variant in a family member, and you want to do:
- Diagnostic testing in affected family members
- Predictive testing in unaffected family members
- Carrier testing in the case of autosomal recessive and X-linked disorders
- Segregation of variants
Choose Targeted Variant Testing for:
- Confirmatory analysis of research or direct-to-consumer results
- Testing of published founder or common variants
- Clarification of variant classification for variants reported by another laboratory
Variant Specific Testing takes approximately 4 weeks from the time the sample and all required information is received.
We developed Nucleus to gain, share, and build life changing genetic knowledge.