American Thoracic Society Conference
(Booth # 1146) in Philadelphia, PA
5/19 - 5/23
Ambry Genetics makes every effort to help clarify the clinical implication of variants of unknown significance (VUSs) via co-segregation analysis through a Family Studies Program.
Accurate classification of VUSs 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. Complimentary testing of appropriate family members through Ambry’s Family Studies 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 cardiac panels. The Family Studies 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 complimentary testing approval.
Of note, segregation analysis via the Family Studies Program does not guarantee VUS reclassification. Furthermore, not all family members are informative for complimentary testing, and additional details or documentation of a family member’s clinical findings may be requested.
Benefits of performing family studies for VUSs include:
Exclusion criteria for complimentary testing are as follows:
Family Studies Process:
*Application and required materials can be faxed to Ambry Genetics at 949-900-5501 ATTN: Genetic Counselor.
Turnaround time: 4-6 months (or longer) after receipt of last approved familial specimen