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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:
Exclusion criteria for follow-up testing are:
Family Studies Process:
*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