Variant Specific Testing

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.

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Last modified: February 15, 2024