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 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|
|81479||Exon 6 only of COL1A1 (collagen, type I, alpha 1) Ehlers-Danlos Syndrome, Type VIIA|
|81479||Exon 6 only of COL1A2 (collagen, type I, alpha 2) Ehlers-Danlos Syndrome, Type VIIB|