Maternal Cell Contamination (MCC) Studies

Test Guide

Maternal Cell Contamination studies are available for prenatal samples through the Collagen Diagnostic Laboratory.

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 (including MCC studies) is 5-7 days for known mutations and approximately 2 weeks for full sequencing.


Maternal Cell Contamination studies:  Using AmpFlSTR® Identifiler® Plus (Applied Biosystems), 15 highly polymorphic tetranucleotide repeat loci are amplified by multiplex PCR, products are separated by capillary electrophoresis and analyzed with GeneMapper® software.

Specimen Requirements

MATERNAL BLOOD: 2 EDTA (purple top) tubes, 5-10cc total
Whole blood may be stored up to 5-7 days in the refrigerator before shipping.

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.

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

Ship sample at room temperature with overnight delivery.

Related Tests

Prenatal Testing

CPT Code & Cost


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University of Washington, UW Medicine Pathology.