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Pediatrics - Cardiology

Houston, Texas

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Pediatrics - Cardiology
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GATA4 Mutation Analysis

GATA4 is a member of GATA family of zinc finger transcription factors. Members of this family recognize the GATA motif, which is present in the promoters of many genes. GATA4 gene contains six exons spanning 55 kb of genomic distance that was mapped to chromosome 8p23.1. Human GATA4 gene encodes a protein of 442 amino acids. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Multiple mutations in GATA4 have been identified in patients with atrial septal defect type 2 (ASD2), atrioventricular septal defect 4 and ventricular septal defect 1. GATA4 mutations demonstrate autosomal dominant inheritance with a broad range of clinical severity both within and between families. Definitive genotype/phenotype correlations have not been described.

The John Welsh Cardiovascular Diagnostic Laboratory offers molecular genetic testing for GATA4 mutations. Individuals will be tested by automatic fluorescent DNA sequencing of the coding exons of the GATA4 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 congenital heart diseases, such as atrial septal defect type 2 (ASD2), atrioventricular septal defect 4, and ventricular septal defect 1.


Genomic DNA will be analyzed for GATA4 mutations by automatic fluorescent DNA sequencing of the coding exons of the GATA4 gene, as well as the exon/intron junctions and a portion of the 5' and 3' untranslated region. Patient DNA will be sequenced in both the forward and reverse orientations. If a mutation is identified, additional family members will be analyzed only for the familial mutation by automatic fluorescent DNA sequencing.

Service Fees

Service Direct and Institutional Billing CPT Codes
Index Case (Male or Female) $600 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 the coding exons 2-7 of GATA4

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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