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Offering anonymous, no-cost genetic testing and confidential genetic counseling to patients suspected of having or clinically diagnosed with hATTR amyloidosis through the hATTR Compass program
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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, 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.