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ARVC Sequencing Panel
FORMS AND DOCUMENTS
- Test Info Sheet
- Physician Guide
- Patient Guide
- Medical Necessity Template
- Test Requisition
- Specimen Requirements
TEST DETAILS
- Genes:
- DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43
- Disorders:
- Clinical Utility:
-
- Confirmation of a clinical diagnosis in symptomatic patients
- Risk assessment of asymptomatic family members of a proband with ARVC
- Differentiation of hereditary ARVC from other acquired or genetic heart conditions
- Recurrence risk calculation with a known mutation
- Lab Method:
- Next-gen Sequencing
- Clinical Sensitivity:
- 42%
ORDERING
- Test Code:
- 385
- Turnaround Time:
- 7-8 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
BILLING
- CPT Codes:
- 81479x1
- Billing Information:
- View Cardiology Billing Policy
- ICD Codes:
-
- 427.9: Cardiac dysrhythmia, unspecified Arrhythmia (cardiac) NOS
- 427: Cardiac dysrhythmias
- 426.9: Conduction disorder, unspecified Heart block NOS, Stokes-Adams syndrome
REFERENCES
- Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
- GeneReviews: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. McNally E, MacLeod H, and Dellefave L. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=arvd Accessed September 18, 2009.
- Nava A, Bauce B, Basso C, Muriago M, et al.. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2000; 36: 2226-33. (PubMed: 11127465)
- McKenna WJ, Thiene G, Nava A, et al. Diagnosis of arrhythmogenic right ventricular dysplasia / cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J. 1994: 71: 215-8 (PubMed: 8142187)
- Marcus FI et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the Task Force Criteria. Eur Heart J. 31:806-814, 2010 (PubMed: 20172912)
- Bennett S. Pharmacogenomics. 5(4):433-8, 2004 (PubMed: 15165179)
