Genetic analysis for this gene is conducted using Next-Generation Sequencing (NGS) technology, either as part of a targeted gene panel or as a standalone test, based on the patient's needs and clinical indication.
NGS technology enables the simultaneous analysis of multiple or individual genes with high accuracy and speed, providing reliable genetic information. This test is designed to support accurate diagnosis, risk assessment, and prevention of conditions associated with the specific gene. It is a valuable tool for confirming clinical suspicion, selecting personalized therapeutic approaches, and making decisions regarding reproductive planning.
Identified genetic variants are evaluated by a specialized team of experts in accordance with the 2015 ACMG guidelines (American College of Medical Genetics and Genomics). They are classified as pathogenic, likely pathogenic, or of uncertain significance (Variant of Uncertain Significance, VUS). The final report includes tables detailing the characteristics of each variant (e.g., zygosity, in silico predictions, phenotype associations, and population frequency), along with supporting references. The test is conducted in an accredited laboratory (CAP/CLIA) using advanced bioinformatics tools and in accordance with strict international standards for the quality and reliability of genetic analysis.
Genetic counseling is recommended before and after testing to ensure proper interpretation of the findings and understanding of their potential clinical implications.
For more information on the methodology’s strengths and limitations, bioinformatics, test performance, and clinical interpretation of the results, please refer to one of the comprehensive genetic panels available.
