Family Variant and VUS Resolution Testing

25 days

Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

Cause for Rejection:
Hemolyzed; quantity not sufficient for analysis; improper container; improper storage temperature; specimen from an individual who has undergone allogeneic bone marrow transplant.

Storage Instructions: For blood, saliva and buccal, maintain specimen at room temperature or refrigerate at 4°C. Do not freeze. For gDNA, room temperature is preferred or refrigerate at 4°C. Frozen also is accepted if shipped on ice packs.

Accredited Laboratory Partner

Family Variant Testing (FVT): Genetic test results may have health implications not only for an individual, but for a family. FVT can help identify other family members at risk for the same genetic disease. The FVT result will report on the variant(s) found in the family member, as well as any other variant(s) found in the gene(s) tested. Depending on the individual’s clinical and family history, a broader panel may be more appropriate. VUS Resolution Testing: In order to help resolve the clinical significance of specific variants of uncertain significance (VUSs), follow-up testing of a patient’s family members may clarify the relationship between the variant and the genetic condition. The VUS resolution testing result will report on the variant(s) found in the family member, as well as any other variant(s) found in the tested gene(s). This kind of testing cannot clarify the clinical significance for all VUSs.

Whole blood or Oragene Dx 500 saliva kit or ORAcollect Dx OCD-100 buccal swabs or genomic DNA (gDNA) extracted from non-fetal, non-tumor sources only

4 mL whole blood or Oragene Dx 500 saliva kit or 2 ORAcollect Dx OCD-100 buccal swabs or 5 micrograms (μg) of gDNA with a concentration of 50 ng/μL

Lavender-top (EDTA) tube or Oragene Dx 500 saliva collection kit or ORAcollect Dx OCD-100 buccal swabs or 2 mL microcentrifuge tube with screw cap

Do not eat, drink, smoke or chew gum 30 minutes prior to saliva or buccal collection.

Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Follow ORAcollect Dx OCD-100 buccal swab collection instructions. For gDNA, DNA must be extracted in a CLIA-certified laboratory.