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Test of Chromosome Microarray Analysis

Omics test Model
Test Code CS
Test Summary Chromosome microarray (CMA) for detecting copy number variations (CNVs), loss of heterozygosity (LOH) and uniparental disomy (UPD).
Turn Around Time 9 days
Acceptable Sample Types Amniotic Fluid , Chorionic Villi , Cord Blood , Cultured Amniocytes , Cultured Chorionic Villi , Products of Conception , Whole Blood (EDTA)
NY Approved No
Accreditations CAP
*TAT starts after the sample and all required sample information is received, or after the benefits investigation is complete if requested for commercial insurance billing.

**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 Description

CMA covers the whole chromosome, it can detect chromosome aneuploidy, copy number variation (CNVs), ROH/UPD, polyploidy and other abnormalities. The target backbone resolution is 20kb, the specification is 4*180k and contains 180k CGH and SNP probes.

Indications for Testing

  • Prenatal ultrasound abnormalities (various fetal structural abnormalities, excessive/insufficient amniotic fluid, intrauterine development abnormalities, etc.).
  • Results of serological screening and NIPT are at high risk.
  • Elderly pregnant women.
  • Pregnant women with adverse pregnancy history.
  • One or both spouses have a family history of genetic diseases.
  • Other indications that the physicians consider prenatal diagnosis necessary.

Test Methods and Limitations

Chromosomal microarray analysis (CMA) is a technology used for the detection of clinically-significant microdeietions or duplications, with a high sensitivity for submicroscopic aberrations. It is able to detect changes as small as 5-10Kb in size - a resolution up to 1000 times higher than that of conventional karyotyping. CMA is used for uncovering copy number variants (CNVs) thought to play an important role in the pathogenesis of a variety of disorders, primarily neurodevelopmental disorders and congenital anomalies.

Detailed Sample Requirements

Chorionic Villi
Test Details Page
Collection Container(s) EDTA (Purple Top) or ACD (Yellow Top)
Special Sample Instructions Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types.
Cultured Amniocytes
Test Details Page
Special Sample Instructions Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types.
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.
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.
Cultured Chorionic Villi
Test Details Page
Collection Container(s) Two T-25 flasks
Collection

All prenatal specimens will be tested for maternal cell contamination (MCC). Send maternal blood (EDTA tube) for comparison. If blood is unavailable, we will accept genomic DNA and Saliva sample types.

Sample Condition Transfer cultured amniocytes or cultured CVS to two T-25 flasks at ≥80% confluence.
Shipping Cultures topped off with sterile medium and shipped immediately at ambient temperature by overnight express with arrival Monday-Friday only.
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.
Cord Blood
Test Details Page
Collection Container(s) EDTA (Purple Top) or ACD (Yellow Top)
Collection Collect 1 to 3 mL of fetal blood.
Sample Condition Store at ambient temperature. Do not refrigerate or freeze.
Shipping Ship overnight at ambient temperature ensuring receipt within 5 days of collection.
Amniotic Fluid
Test Details Page
Special Sample Instructions Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types.