Family Studies Research Program

Ambry Genetics makes every effort to help clarify clinical implications of variants of unknown significance (VUS) via co-segregation analysis through its Family Studies Research Program

Accurate classification of a VUS is integral to understanding the ramifications of genetic results for many patients and their families. However, such classification is often a challenge due to conflicting or limited available information. Follow-up testing of appropriate family members through Ambry’s Family Studies Research Program can provide additional, powerful information to aide in VUS classification.

Primary areas of VUS research include: cancer genetics, genes linked to intellectual disabilities and results from other next generation sequencing panels. The Family Studies Research Program operates on a case-by-case basis, requiring a review of the patient’s family history and clinical findings by our Clinical Diagnostics team prior to approval for testing.

Of note, segregation analysis via the Family Studies Research Program does not guarantee VUS reclassification. Furthermore, not all family members are informative for follow-up testing, and additional details or documentation of a family member’s clinical findings may be requested.

Benefits of performing family studies for VUS classification include:

  • Elucidating if the genetic change is inherited or a de novo event
  • Helping to understand disease segregation
  • Determining associated co-morbidities

Exclusion criteria for follow-up testing are:

  • Genetic alterations with a classification other than “VUS”
  • High frequency of the variant in the general population, or in the specific cohort
  • Discordance between the proband’s clinical symptoms and documented phenotypes associated with the gene of interest
  • Lack of informative family members available for testing

Family Studies Process:

  • Download and complete the appropriate Family Studies Application (see below)
  • Please include detailed pedigree and any available clinical notes
  • Ambry’s Clinical Diagnostics team will notify you once application is received and reviewed (in 7-10 business days)
  • Approved follow-up testing is initiated after all approved familial specimens are received (must be within 6 months from time of approval)
  • Results are summarized in a laboratory report on the proband, complete with interpretation by our clinical staff
  • Please direct questions to

*Application and required materials can be faxed to Ambry Genetics at 949-271-5621 ATTN: Genetic Counselor

Turnaround time: 4-6 months (or longer), after receipt of last approved familial specimen

Additional Forms: