Arrhythmogenic Right Ventricular Dysplasia


Test Details
TEST CODE NGS367
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 10
CPT CODE 81439, 81479
PRICE $1795
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance Arrhythmogenic right ventricular dysplasia (ARVD or ARVC) – is a rare type of cardiomyopathy. ARVD is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, but it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. Symptoms include palpitations and fainting after physical activity and abnormal ECG findings. The mean age at diagnosis is young adults, but can range from 4-64 years. Management is individualized and focused on prevention of syncope, cardiac arrest, and sudden death through use of antiarrhythmic medication and an implantable cardioverter-defibrillator.
Relevant Diseases
  • Arrhythmogenic right ventricular dysplasia

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) 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 (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
DSC2
DSG2
DSP
JUP
PKP2
PLN
RPSA
RYR2
TGFB3
TMEM43

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