Familial Variant Testing (FVT) utilizes next-generation sequencing (NGS) to analyze specific genetic variants previously identified in a family member. It is a targeted genetic test specifically designed to support diagnostic confirmation, risk assessment, and testing of relatives.
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Familial Variant Testing (FVT) is a targeted genetic analysis designed to evaluate specific disease-associated variants previously identified in a family member. The test is applied to confirm the presence or absence of known variants in additional relatives, supporting clinical decision-making in a familial context. Familial variant testing (FVT) is particularly useful when a genetic diagnosis has already been established within the family, and further clarification is required for other members.
Familial variant testing (FVT) is commonly used for diagnostic purposes in affected individuals, predictive testing in asymptomatic family members, and carrier testing in autosomal recessive and X-linked conditions. In addition, it supports the evaluation of variant segregation within families, contributing to a better understanding of inheritance patterns and clinical relevance.
Familial variant testing (FVT) is limited to the analysis of predefined variants and focuses exclusively on determining whether these specific genetic changes are present or absent in the individual being tested. The scope of the analysis does not extend to a broader evaluation of the genome or additional unrelated findings. If other clinically relevant findings are suspected, further genetic testing may be recommended.
Up to 10 genetic variants may be analyzed per test request, allowing flexibility when multiple variants have been previously identified within a family. This targeted approach enables efficient and focused genetic evaluation while maintaining high analytical accuracy.
Despite its clinical utility, certain limitations are recognized. The test is restricted to previously identified variants and does not provide comprehensive genomic analysis. Low-level mosaicism or variants located in complex genomic regions may not be reliably detected. As with all genetic testing, results should be interpreted in conjunction with clinical findings and family history.
Data analysis is performed using validated sequencing methodologies and interpretation frameworks aligned with current scientific evidence and international guidelines. Continuous updates from scientific literature and genomic databases support accurate and clinically relevant interpretation of results.
The test is performed in a clinical laboratory accredited to ISO 15189 and certified by CLIA and CAP, ensuring the validity, accuracy and international recognition of the results.
