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

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.