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MCC + QF-PCR

Omics test Model
Test Code MCCQFP002
Test Summary Quantitative Fluorescent-Polymerase Chain Reaction (QF-PCR) is a laboratory technique used to amplify specific regions of DNA and quantify the amount of DNA present in those regions. Maternal Cell Contamination (MCC) - Presence of maternal cells or DNA in fetal sample/DNA is known as MCC
Turn Around Time 7 days
Acceptable Sample Types DNA , Products of Conception , Whole Blood (EDTA)
NY Approved No
Accreditations CAP , ISO 15189 (NABL)
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
This test is not available in your region United States, please select your nearest laboratory to request more information.
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Test Code: MCCQFP002
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Test Description

Quantitative Fluorescence PCR (QF-PCR) is a molecular-based technique employed for prenatal and postnatal diagnosis of rapid aneuploidy detection(RAD) of chromosomes 13, 18, 21, X, and Y.A technique based on the amplification of chromosome-specific DNA sequences (STR, short tandem repeats) polymorphic in length, is used to determine the presence of different alleles. Employing fluorescent primers, the amplified segments can be visualized and quantified as peak areas on automated DNA scanners.QF-PCR is rapid, cost-effective, almost entirely automated, small sample size with high accuracy, and can detect most abnormalities diagnosed by conventional karyotyping. Maternal Cell Contamination (MCC)Presence of maternal cells or DNA in fetal sample/DNA is known as Maternal Cell Contamination (MCC). Highly polymorphic STR (short tandem repeat) loci are used to differentiate between fetal and maternal samples/DNA, identify extent of Maternal Cell Contamination if present and thus avoid erroneous reporting. At present, the test can confidently identify 10% Maternal Cell Contamination or greater.

Indications for Testing

QFPCR

  • Abnormal fetal ultrasound and presenceof soft markers like hypoplastic nasalbone, Increased NT, Echogenic bowel etc.
  • Maternal serum screening positive forchromosome aneuploidies
  • NIPT positive for chromosomeaneuploidies
  • Parental chromosomal rearrangement ormosaicism
  • Previous history of recurrent miscarriages
  • Previous fetus/baby with chromosomalabnormality

MCC

One of the risks associated with prenatal /fetal testing is maternal cell contamination (MCC), which occurs when fetal specimen is mixed with maternal blood or tissue. The risk of MCC is associated with any fetal sample such as chorionic villus, POCs, Cord Blood, Amniotic Fluid, etc. If MCC is present, the maternal DNA may interfere with the fetal genetic testing thereby resulting in inaccurate reporting and diagnosis. This test will enable us to identify if a specific fetal sample has MCC. In order to perform this test a maternal blood sample is required along with the fetal sample.

Condition Description

QFPCR

  • Screening result suggests aneuploidy
  • Advanced maternal age
  • One major or at least two minor fetal structural defects found on ultrasound
  • Previous fetus or child with aneuploidy
  • Parent of this pregnancy has a structural chromosome abnormality (e.g.,translocation, inversion) involving chromosome 21, 13, 18, X, or Y
  • Parent of this pregnancy has an extra chromosome (e.g., Down syndrome, XXX syndrome, Klinefelter syndrome)

MCC

The presence of both maternal and nonmaternal alleles for each fetal marker indicates the fetal specimen is not contaminated. MCC is confirmed when both alleles in the fetus are maternal.

Test Methods and Limitations

QF PCR analysis includes amplification, detection and analysis of chromosome-specific DNA sequences known as genetic markers or small tandem repeats (STRs).

MCC - Testing includes amplification of highly polymorphic short tandem repeat (STR) markers with fluorescently labelled primers; fragment sizing of the resulting PCR products using a genetic analyzer.

Detailed Sample Requirements

Whole Blood (EDTA)
Test Details Page
Collection Container(s) EDTA (purple top)
Collection Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.
Sample Condition Store at ambient temperature. Do not refrigerate or freeze.
Shipping Ship overnight at ambient temperature ensuring receipt within 5-days of collection.
Special Sample Instructions Clotted or hemolyzed samples are not accepted.
Products of Conception
Test Details Page
Collection Container(s) Sterile, screw-top container filled with tissue culture transport medium.
Collection

All prenatal specimens will be tested for maternal cell contamination (MCC). Send maternal blood (EDTA tube) for comparison. Transport products of conception and/or fresh tissue (minimum: 10 mg) in a sterile, screw-top container filled with tissue transport medium. Do not place in formalin. If the specimen is too large for a normal collection tube, a larger sterile container can be used.
Sample Condition If the autopsy is performed: Facia lata, diaphragm, tendon, skin, tissue from internal organs (if fresh), chest wall cartilage (particularly if macerated), or placenta from fetal side. If no autopsy is performed: Placenta from fetal side is preferred, e.g., villi. Umbilical cord is also acceptable. State clearly in the TRF whether the tissue was of fetal or placental in origin.
Shipping Shipped immediately at ambient temperature or with a cold pack, especially under hot weather to the laboratory by overnight express with arrival Monday-Friday only. Alternatively, fresh POC and/or tissue samples can be snap-frozen and kept at -80°C. Frozen tissue samples should be shipped overnight on dry ice with arrival Monday-Friday only - NO WEEKEND SHIPMENTS!
Special Sample Instructions For prenatal samples, Revvity Omics will provide a shipping label to use for shipping the sample to our lab. Please call 1 (866) 354-2910 to arrange this. At this time, you will also be connected to a laboratory genetic counselor to answer any questions about the testing. For samples originating outside of the United States, please contact your nearest Revvity Omics laboratory for more information.
DNA, Isolated
Test Details Page
Collection

Required DNA Quantity by Test Type*:

  • Next Generation Sequencing (NGS): Send >1000 ng total gDNA @ >15 ng/μL. Please ship samples in 10mM Tris. Do not use EDTA.
  • Sanger Sequencing: Send >500 ng total gDNA @ >15 ng/μL (varies by the size of the gene and the variants requested).
  • Non-Sanger Sequencing Tests: Send >500 ng total gDNA @ >15 ng/μL.
Sample Condition * Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met.
Shipping Ship overnight at ambient temperature.
Special Sample Instructions
  • Research Laboratories: DNA extracted in research laboratories is not acceptable. Only under exceptional circumstances (e.g., proband not available) will DNA extracted in a research laboratory be accepted for clinical testing. Additional testing (e.g., of other family members) may be required to confirm results.
  • Laboratories outside the United States: Non-US laboratories are not subject to CLIA regulations and will be reviewed on a case-by-case basis. Please call to speak with a laboratory genetic counselor before submitting a DNA sample from any non-CLIA-certified laboratory.
  • Special Notes: If extracted DNA is submitted, information regarding the method used for extraction should be sent along with the sample.