PKP4 Mutation Analysis
Plakophilin 4 is a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. PKP4 gene contains 22 exons and spans around 225.6 kb genomic distance that was mapped to chromosome 2q24.1. Mutations in PKP4 gene have been identified in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). ARVD/C is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability and sudden death. Definitive genotype/phenotype correlations have not been described.
The John Welsh Cardiovascular Diagnostic Laboratory offers molecular genetic testing for PKP4 mutations. Individuals are tested by automatic fluorescent DNA sequencing of the coding exons of the PKP4 gene. We strongly recommend initial testing of a clearly affected individual, if available, in order to provide the greatest test sensitivity and clearest interpretation of results for subsequent family members. Genetic counseling is recommended for all individuals.
Reasons for Referral
Molecular confirmation of the diagnosis of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).
Genomic DNA is analyzed for PKP4 mutations by automatic fluorescent DNA sequencing of the coding exons of the PKP4 gene, as well as the exon/intron junctions and a portion of the 5' and 3' untranslated region. Patient DNA is sequenced in both the forward and reverse orientations. If a mutation is identified, additional family members are analyzed only for the familial mutation by automatic fluorescent DNA sequencing.
|Service||Direct and Institutional Billing||CPT Codes|
|Index Case (Full Gene)||$1200 per sample||81406, G0452|
|Additional Family Members||$300 per sample; known familial mutation only||81403, G0452|
DNA Sequencing Analysis: Approximately 99 percent detection of mutations in coding exons 1-22 of PKP4.
Blood (preferred): EDTA (purple-top) tubes: Adult: 5 cc, Child: 5 cc, Infant: 2-3 cc
Tissue: Frozen (preferred), RNAlater, Formalin-fixed, Paraffin-embedded
Other Body Fluids: Call to inquire
Buccal Swabs: One swab from each cheek