Family Studies 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 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 our Family Studies Program can provide additional, powerful information to aid in VUS classification.

Benefits of performing family studies for VUS classification include assessing if an alteration is an inherited or de novo event and determining segregation with disease. 

Segregation analysis via the Family Studies Program does not guarantee VUS reclassification. Classification of variants is based on multiple lines of evidence, with segregation analysis representing one of these lines of evidence. Also, 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.


Situations in which Family Studies are not likely to be informative:

  • 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 paperwork (see below), and fax to Ambry Genetics at 949-271-5621 ATTN: Family Studies
  • Please include detailed pedigree and any available clinical notes
  • Ambry’s Family Studies team will notify you once the application is received and reviewed (in 7-10 business days)
  • Results are summarized in a Family Studies report for the proband, complete with interpretation by our clinical staff
  • Turnaround time: up to 6 months
  • Please direct questions to

Cancer Family Studies

Cardiology Family Studies

Exome Family Studies

Neurology Family Studies

Other Family Studies

Information for Patients and Family Members