Family Member Testing

Blueprint Genetics provides efficient testing to family members of the probands (index patients) that have previously been or are currently analyzed at Blueprint Genetics. We provide family members with mutation-specific Sanger tests (1-3 mutations).

We believe that comprehensive genetic profiling of the index patient is essential when optimizing the strategy used in family member testing. This approach guarantees maximum quality and efficiency when evaluating families with hereditary diseases.

When placing a family member test order it is recommended to include the name and date of birth (DOB) or social security number (SSN) of the index patient previously tested at Blueprint Genetics. If the index has not tested at our laboratory, we need additional information of the index patient’s mutation (nucleotide change, amino acid change and relation to specific gene transcript). In these cases, we require our customer to submit index patient’s sample to us for a positive control. There is a risk for misinterpreting family member test if positive control is not used in the analysis. Thus, we provide a free analysis for index patient mutation when performing family member tests. However, isolating DNA for a positive control from the index patient sample will be charged if the positive control sample is not send as DNA.

Find more info in Support

Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.