Family Studies

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, which is follow-up testing of appropriate family members that 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

To start the 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
  • A detailed pedigree and any available clinical notes are mandatory for accurate case assessment
  • Once received, Ambry’s Family Studies team will review the application within 7-10 business days
  • Results are summarized in a Family Studies report for the proband, complete with interpretation by our clinical staff (alternate report formats may be considered upon request)
  • Turnaround time: up to 6 months
  • Please direct questions to

Family Studies Program Downloads

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