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 (Sam Bailey 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.
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 of COL1A1, COL1A2, TGFBR1, or TGFBR2|
|81403||Targeted mutation analysis for familial or known mutation, single exon|
|Known mutation testing of all other genes (COL3A1, ACTA2, SMAD3, etc)|
|81479||Targeted mutation analysis for familial or known mutation, single exon|
Additional charges that may apply:
|Expansion of cells from culture|
|88241||Thawing, expansion cultured cells||$38.00|