How FAMILION Works
The FAMILION tests are designed to identify genetic mutations in patients and their family members with inherited cardiac channelopathies such as Long QT Syndrome (LQTS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) and Brugada Syndrome (BrS) or inherited cardiomyopathies such as Hypertrophic Cardiomyopathy and Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). The same genes tested for these cardiac channelopathies and cardiomyopathies may also cause related genetic disorders, such as Sudden Infant Death (SIDS), Short QT Syndrome, Familial Atrial Fibrillation, Progressive Cardiac Conduction Disease, Congenital Sick Sinus Syndrome, Idiopathic Ventricular Fibrillation, Left Ventricular Noncompaction Cardiomyopathy, and Dilated Cardiomyopathy.

Description of the Tests
The FAMILION tests provide analysis including sequence determination and variant detection (i.e. mutations and polymorphisms) in open reading frames and intronic sequences containing splice junction sites. Sequencing is performed in both forward and reverse directions for most regions using dye-terminator chemistries. For each mutation found, a second round of DNA extraction, amplification and sequencing is completed to confirm the initial finding.

Available Tests:

Test Results
DNA variants are identified and classified by comparison with reference sequences and the PGxHealth database. This database is produced through review of published literature and PGxHealth’s sequencing. This database also contains an extensive collection of common polymorphisms and rare variants in these genes that are not expected to confer susceptibility to congenital arrhythmia syndromes; these variants were found in comprehensive scanning of the genes in several hundred individuals of diverse race and ethnicity or from study of the literature, together referred to as the “Reference Panel.” The healthy individuals in the Reference Panel were not known to have LQTS, Brugada Syndrome, CPVT or related syndromes.

An expert scientist ensures variant classification and interpretation reflect current, published information. All traces with variants are reviewed and approved by an American Board of Medical Genetics board-certified molecular geneticist. All detected variants are classified as to their disease-causing potential and reported to the referring physician.

The FAMILION test results will identify a mutation in up to 75% of cases of familial LQTS, 50-55% of CPVT and 15-20% of BrS. The FAMILION HCM Test will identify a mutation in ~50-60% of patients with a high index of suspicion for HCM and the FAMILION ARVC Test will identify a mutation in ~40-50% of patients with a high index of suspicion for ARVC.

For more information about FAMILION, download a copy of the FAMILION Technical Specifications.

1-877-2-PGXHEALTH (877-274-9432)