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Quick List

• ACTA2 Gene
• Bruck Syndrome
• Caffey Disease
• COL1A1 and COL1A2 Genes
• COL3A1 Gene
• Collagen Screening
• Individual OI Genes
• EDS type VII
• Known Mutation Testing
• Prenatal Testing
• Recessive OI Panel
• SLC2A10 Gene
• SMAD3 Gene
• TGFBR1 and TGFBR2 Genes
• Vascular Aneurysm Panel
• Costs and CPT Codes

Collagen Screening

The collagen proteins made in skin and bone are synthesized by cultured dermal fibroblasts. These cells can be used to examine the structure and synthesis of type I and type III procollagen/collagen.

For collagen screening, cultured fibroblasts are shipped from the referring laboratory. When facilities are not available for growing fibroblasts, the skin biopsy can be shipped directly.  Once the cells are adapted to our culture conditions, they are plated at high density (250,000 per 35mm culture dish) and allowed to attach and spread overnight. They are then incubated for 16 hours with radioactively labeled proline in the presence of ascorbic acid to enhance collagen production. The cell layer and the secreted medium proteins are harvested separately and examined by gel electrophoresis. In addition, we cleave the collagenous proteins in both samples with protease to remove the non-triple helical domains from both ends of the central triple helix, and examine the protease resistant molecules by gel electrophoresis.

Sensitivity:  85-90% of individuals with OI and 99% of individuals with EDS type VII are identified by alterations in chains mobility and amount of type I collagen. Greater than 95% of individuals with EDS type IV are identified by alterations in the chains of type III collagen.

Specimen Requirements:
Cultured Fibroblasts:  Please submit two (2) T25's of cultured cells (CVS cells for prenatal diagnosis).  Please only label the sides of flasks.

OR

Skin biopsy:  Please submit a single biopsy (2-3 mm in diameter) in tissue culture medium.