The CDL offers targeted mutation analysis for previously identified mutations in the genes we sequence, including COL1A1, COL1A2, COL3A1, TGFBR1, TGFBR2, CRTAP, LEPRE1, and ACTA2.
Known mutation testing should be selected if a mutation was previously identified in the family by the Collagen Diagnostic Laboratory (we tested a relative of the patient) or by another laboratory (please provide a copy of the original mutation report if testing was not completed at our laboratory).
Specimen Requirements: 5 cc of blood drawn in EDTA (lavender top tube) or DNA
| Known Mutation Testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification (x1) |
| 83894 | Polyacrylamide gel electrophoresis |
| 83904 | Mutation identification by sequencing (x2) |
| 83912 | Interpretation and report, complex |
| TOTAL | $205.00 |
Additional charges that may apply:
| DNA Extraction from Blood Sample |
| CPT CODE | DESCRIPTION |
|---|
| 83891 | Extraction of highly purified DNA |
| TOTAL | $50.00 |
| DNA Extraction from Amniocytes |
| CPT CODE | DESCRIPTION | PRICE |
|---|
| 83891 | Extraction of highly purified DNA | $50.00 |
| | |
| DNA Extraction from stored Fibroblasts or cultured CVS cells |
| CPT CODE | DESCRIPTION | PRICE |
|---|
| 88241 | Thawing, expansion cultured cells | $33.00 |
| 83891 | Extraction of highly purified DNA | $33.00 |
| | |
