Prenatal Testing

Test Guide

The CDL offers targeted mutation analysis for a known familial mutation on prenatal samples (all genes) and full sequencing of the Osteogenesis Imperfecta genes (Dominant and Recessive) 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 2 weeks for full sequencing.

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 Gene, +/- array (del/dup):15 µg DNA at a minimum concentration of ≥200 ng/µl
Gene panels, +/- array (del/dup): 35 µg DNA at a minimum concentration of ≥200 ng/µl
Single site (known familial mutation or variant): 5 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.

Radiographs are welcome for analysis by Laboratory Directors.

Related Tests

MCC Studies

CPT Code & Cost

81479
$300.00

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