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Ambry’s Family Studies Program
Co-segregation analysis to gain deeper insights and resolve uncertain results.
How It Can Help
Ambry provides co-segregation analysis through our Family Studies Program to help clarify the clinical implications of variants of unknown significance (VUSs). This targeted follow-up testing of appropriate family members can yield data to aid in VUS classification, such as assessing if a genetic alteration is an inherited or de novo event, and determining segregation with the disease.
Co-segregation analysis represents one line of evidence within a multi-faceted classification framework and does not guarantee VUS reclassification. Furthermore, not all family members are informative for follow-up testing via the Family Studies Program and may not be eligible. Additional documentation of a family member’s clinical information may be requested.
Co-segregation analysis represents one line of evidence within a multi-faceted classification framework and does not guarantee VUS reclassification. Furthermore, not all family members are informative for follow-up testing via the Family Studies Program and may not be eligible. Additional documentation of a family member’s clinical information may be requested.
Things to Know
When 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 begin 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 FamilyStudies@ambrygen.com
Oncology
Application for Family Studies
