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), Brugada Syndrome (BrS), and Short QT Syndrome (SQTS) or inherited cardiomyopathies such as Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Dilated Cardiomyopathy (DCM) and Conduction Disease associated Dilated Cardiomyopathy (CD-DCM). The same genes tested for these cardiac channelopathies and cardiomyopathies may also cause related genetic disorders , such as Sudden Infant Death Syndrome (SIDS), Familial Atrial Fibrillation, Progressive Cardiac Conducation Disease, Congenital Sick Sinus Syndrome, Idiopathic Ventricular Fibrillation and Left Ventricular Noncompaction 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 75-80% of cases of familial LQTS, 65-70% of CPVT, 25-40% and of BrS. The FAMILION HCM Test will identify a mutation in 50-60% of patients with a high index of suspicion for HCM, the FAMILION ARVC Test will identify a mutation in 40-50% of patients with a high index of suspicion for ARVC, the FAMILION DCM Test will identify a mutation in 25% of patients with a high index of suspicion for DCM and the FAMILION CD-DCM test will identify a mutation in 40-50% of patient with a high index of suspicion for CD associated DCM.
Interpreting FAMILION Genetic Test Results
For more information about FAMILION, download a copy of the FAMILION Technical Specifications.
1-877-2-PGXHEALTH (877-274-9432)
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