The CDL offers targeted mutation analysis for a known familial mutation on prenatal samples and full sequencing of the COL1A1 and COL1A2 genes to test for Osteogenesis Imperfecta in pregnancies.
We ask that you notify one of the genetic counselors in advance (Melanie Pepin or Dru Leistritz, 206-543-5464) before sending a prenatal sample. The turnaround time for prenatal testing is 5-7 days for known mutations and approximately 3-4 weeks for full sequencing.
Specimen Requirements:
Two T-25 flasks of cultured CVS cells or DNA extracted from CVS cells
Two T-25 flasks of cultured amniocytes or DNA extracted from amniocytes
Please note that we do not offer maternal cell contamination studies (MCC) and assume the sample is fetal in origin.
| 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 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 |