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. This panel is designed to detect heritable germline mutations and should not be used for the detection of somatic mutations in tumor tissue.

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

Familial Variant Testing

Choose Targeted Variant Testing for:

• Confirmatory analysis of research or results reported by another laboratory
• Testing of published founder or common variants
• Clarification of classification for variants reported by another laboratory

Targeted Variant Testing

Variant Specific Testing takes approximately 4 weeks from the time the sample and all required information is received.