EDS type VII is characterized by congenital hip dislocation, joint hypermobility, soft skin with normal scarring, easy bruising, blue sclerae, small jaw, and hypertrichosis
For the sequence analysis of the two type I collagen genes for mutations that result in the EDS type VII phenotypes, genomic DNA surrounding exon 6 is amplified from each gene, COL1A1 and COL1A2, using a total of two primer sets. The 2 products are screened by polyacrylamide gel electrophoresis. The coding and flanking regions of exon 6 in both genes are sequenced by automated sequencing (ABI 3130) in 4 reactions.
Sensitivity: The sensitivity for identifying a mutation in an individual with the clinical phenotype of EDS type VIIA or VIIB is 98-99%.
Specimen Requirements: 5 cc of blood drawn in EDTA (lavender top tube) or DNA
| EDS VIIA/B DNA Testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification COL1A1 and COL1A2 exon 6 from genomic DNA (x2) |
| 83894 | Polyacrylamide gel electrophoresis (x1) |
| 83904 | Mutation identification by bidirectional sequencing (x4) |
| 83912 | Interpretation & Report |
| TOTAL | $268.00 |
| DNA Extraction from Blood Sample |
| CPT CODE | DESCRIPTION |
|---|
| 83891 | Extraction of highly purified DNA |
| TOTAL | $50.00 |
