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Pediatrics - Cardiology

Houston, Texas

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Pediatrics - Cardiology
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SLC2A10 Mutation Analysis

SLC2A10 gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. SLC2A10 gene contains five exons spanning 26.7 kb of genomic distance that was mapped to chromosome 20q13.1. Mutations in SLC2A10 gene have been associated with arterial tortuosity syndrome (ATS). ATS is an autosomal-recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at a young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries. Definitive genotype/phenotype correlations have not been described.

The John Welsh Cardiovascular Diagnostic Laboratory offers molecular genetic testing for SLC2A10 mutations. Individuals are tested by automatic fluorescent DNA sequencing of the coding exons of the SLC2A10 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 arterial tortuosity syndrome (ATS), pulmonary artery aneurysm.

Methodology

Genomic DNA is analyzed for SLC2A10 mutations by automatic fluorescent DNA sequencing of the coding exons of the SLC2A10 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 (Male or Female) $750 per sample 81404, G0452
Additional Family Members $300 per sample; known familial mutation only 81403, G0452

Sensitivity

DNA Sequencing Analysis: Approximately 99 percent detection of mutations in the coding exons of SLC2A10.

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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