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Pediatrics - Cardiology

Houston, Texas

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Pediatrics - Cardiology
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COL3A1 Mutation Analysis

COL3A1 gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. COL3A1 gene contains 51 exons spanning 38 kb of genomic distance that was mapped to chromosome 2q31. Two transcripts, resulting from the use of alternative polyadenylation sites, have been identified for this gene. Multiple mutations in COL3A1 are associated with Ehlers-Danlos syndrome types IV and with aortic and arterial aneurysms. COL3A1 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 COL3A1 mutations. Individuals are tested by automatic fluorescent DNA sequencing of the coding exons of the COL3A1 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 Ehlers-Danlos syndrome types IV, aortic and arterial aneurysms.


Genomic DNA is analyzed for COL3A1 mutations by automatic fluorescent DNA sequencing of the coding exons of the COL3A1 gene, as well as the exon/intron junctions and a portion of the 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) $1500 per sample 81408, 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 of COL3A1.

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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