The Collagen Diagnostic Laboratory offers molecular testing of COL3A1 on chromosome 2. Using genomic DNA, the coding sequences are amplified using flanking intron primers and sequenced by automated sequencing (ABI 310).
Sensitivity: The sensitivity for identifying a mutation in an individual with the clinical phenotype of EDS type IV is greater than 90%.
Specimen Requirements: 5 cc of blood drawn in EDTA (lavender top tube) or DNA
| COL3A1 gDNA testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification COL3A1 (x25) |
| 83904 | Mutation identification by sequencing COL3A1 (x32) |
| 83912 | Interpretation and report, complex |
| TOTAL | $1,327.00 |
| DNA Extraction from Blood Sample |
| CPT CODE | DESCRIPTION |
|---|
| 83891 | Extraction of highly purified DNA |
| TOTAL | $50.00 |
