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Comprehensive Cardiomyopathy (NGS Panel and Copy Number Analysis + mtDNA)

CPT: 81439, 81460, 81465

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

      Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic diseases capable of producing the observed magnitude of increased left ventricle wall thickness. The prevalence of unexplained LVH in the general population is estimated at 1:500, predicting approximately 600,000 persons with HCM in the USA. As such, HCM is one of the most common monogenic cardiovascular disorders. Familial HCM caused by sarcomere gene mutations is inherited in an autosomal dominant manner. Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. Genetic DCM can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Multiple well-designed epidemiologic studies have shown an HCM prevalence of approximately 1:500. Regardless of whether a DCM-causing mutation has been identified, evaluation of first-degree relatives of a proband with idiopathic dilated cardiomyopathy by echocardiography and electrocardiography (ECG) has shown that approximately 20%-35% of probands will have familial disease.

      Methodology

      Next-Generation Sequencing

      Recommended MNG Kits

      SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing

      Z-Code

      ZB9C3