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Hereditary Cardiac Arrhythmia (NGS Panel and Copy Number Analysis)

CPT: 81439, 81479

Genes Assessed


      Specimen Requirements


      Specimen

      Blood | Extracted DNA | Cultured Fibroblasts | Muscle | Buccal Cells

      Volume

      Blood: Draw blood in a lavender top EDTA tube, Sample Stability: 5-7 days, Preferred volume: 4 ml, Minimum volume: 2 ml, DO NOT FREEZE. Extracted DNA: From leukocytes, muscle, or fibroblasts: Preferred quantity: 1 microgram, Minimum quantity: 800 nanograms. Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0. Cultured Fibroblasts: Two T-25 flasks of fibroblasts, preferably ~90% confluent. TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. Buccal Cells: One buccal swab should be used for collection. Do not discard solution in collection tube. Follow collection instructions supplied. Stability at ambient temperature is 60 days.

      Container

      Blood: Lavender-Top (EDTA) Tube, Buccal Swab from MNG Kit, Tissue or Extracted DNA: Sterile screw capped vial, Cultured cells: T25 flask

      Collection

      Blood: Specimens should be shipped overnight in a secure container at room temperature. Extracted DNA: Should be shipped overnight at room temperature. If previously frozen, DNA can be shipped in an insulated container with wet or dry ice. Cultured Fibroblasts: T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (TC05). For NGS panels, TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: Samples should be shipped frozen in an insulated container with 5-7 lbs. dry ice, overnight. Buccal cells: Should be shipped overnight in a secure container at room temperature.

      Storage Instructions

      Blood - ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE; Swab - 60 day post-collection room temperature stability; DNA - ship at room temperature after extraction; Fibroblasts - ship flask in insulated container at room temp or refigerated; Muscle - ship in insulated container with 5-7 lbs of dry ice

      Stability Requirements

      Room Temperature: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Refrigerated: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Frozen: Blood - DO NOT FREEZE, Swab - 60 days, DNA - Indefinitely, Muscle - Indefinitely, Fibroblasts - Indefinitely; Freeze/Thaw: None

      Causes for Rejection

      Extracted DNA A260:A280 ratio of outside of 1.8-2.0 range; Frozen blood EDTA tube; Thawed and/or fatty muscle sample; Insufficient buccal cell collection

      Test Details


      Use

      There are several different genetic arrhythmia disorders and multiple genes are associated. Hereditary arrhythmia disorders are found in more than half of all initially unexplained cases of sudden cardiac death in young individuals. In these cases of sudden death, 30% is found to be caused by an arrhythmogenic structural heart disease with increased arrhythmia risk. 70% is caused by a primary hereditary arrhythmia disorder due to dysfunction of the ion channels of the cardiac muscle. Hereditary arrhythmia disorders are rare, but early diagnosis can markedly reduce the risk of sudden cardiac death. Structural Arrythmias include hypertrophic (obstructive) cardiomyopathy (HOCM, HCM), dilated cardiomyopathy (DCM), arrhythmogenic right-ventricular cardiomyopathy/dysplasia (ARVC/D), and left-ventricular noncompaction. Symptoms can vary between affected family members and range from asymptomatic to progressive heart failure, to sudden cardiac death. Primary arrhythmia syndromes include Long and Short-QT syndromes, Brugada syndrome, and Catecholaminergic polymorphous ventricular tachycardia (CPVT). Typical first symptoms of ion channel diseases are palpitations, brief loss of consciousness with spontaneous recovery, or arrhythmogenic seizures, especially if these have specific triggers (physical effort, stress, sudden noises).

      Methodology

      Next-Generation Sequencing

      Recommended MNG Kits

      SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing

      Z-Code

      ZB9DL