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Pediatrics - Cardiology

Houston, Texas

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Pediatrics - Cardiology
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TGFB3 Mutation Analysis

TGFB3 gene encodes the transforming growth factors beta 3, a member of the TGF-beta family of proteins. TGFB3 protein is secreted and is involved in embryogenesis and cell differentiation. The TGFB3 gene contains 7 exons and spans around a 24.8 kb genomic distance that was mapped to chromosome 14q24.3. Mutations in TGFB3 gene are associated with familial arrhythmogenic right ventricular dysplasia/cardiomyopathy type 1 (ARVD/C1). 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 TGFB3 mutations. Individuals are tested by automatic fluorescent DNA sequencing of the coding exons of the TGFB3 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 type 1 (ARVD/C1).


Genomic DNA is analyzed for TGFB3 mutations by automatic fluorescent DNA sequencing of the coding exons of the TGFB3 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 Fees

Service Direct and Institutional Billing CPT Codes
Index Case (Full Gene) $800 per sample 81405, 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 1-7of TGFB3.

Specimen Requirements

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

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