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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 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:
Family Studies Process:
Cancer Family Studies
Cardiology Family Studies
Exome Family Studies
Neurology Family Studies
Other Family Studies
Information for Patients and Family Members