Test Guide
The CDL offers targeted mutation analysis for a known familial mutation on prenatal samples (all genes) in pregnancies.
We ask that you notify the genetic counselor in advance (Dru Leistritz, 206-543-5464) before sending a prenatal sample. The turnaround time for prenatal testing is 5-7 days for known mutations.
Methodology
Sanger Sequencing: The coding exon and flanking intron sequences known to contain the variant are amplified by PCR in a single reaction and then sequenced by automated sequencing.
Specimen Requirements
CULTURED CELLS:
Amniocytes or Cultured CVS Cells: Two confluent T-25 flasks of cultured amniocytes or CVS cells, well-labeled as Prenatal Sample. Please call ahead to notify the CDL (206-543-5464) that a prenatal sample will be coming.
The CDL does not accept direct prep (non-cultured) samples at this time.
DNA:
Single site (known familial mutation or variant): 2 µg DNA
Special Instructions
For known familial mutations, please provide a copy of the original mutation report if testing was not completed at our laboratory.
If testing was not completed at our laboratory, and a positive control sample is available, there will be no charge to test any samples used as positive controls.
Ship sample at room temperature with overnight delivery.
CPT Code & Cost
81479 or 81403$380.00