Chromosome Five-cell Count Plus Microarray (Reveal®), CVS

CPT: 81229; 88235; 88261; 88280
Updated on 11/20/2024
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Synonyms

  • CVS Chromosome Five-cell Count Plus Microarray (Reveal®)

Test Includes

DNA extraction; interpretation; limited five-cell chorionic villus sample (CVS) chromosome analysis (two analyses, one karyotype)


Special Instructions

A completed Clinical Questionnaire for SNP Microarray should accompany specimens. Call 800-345-4363 to request the appropriate form, or photocopy the form from the Genetics Appendix online.

Concurrent maternal contamination (MCC) studies are required.

If prior NIPT studies have been performed, include copy of the report.

This test includes a limited 5 cell chorionic villi sample (CVS) chromosome analysis, which includes two analyses and one karyotype. This test is used to rule out tetraploidy and balanced translocations and inversions not detected by microarray analysis. If specimens from a twin pregnancy are submitted by request, it can be reported if these are DZ or MZ twins.


Expected Turnaround Time

10 - 21 days

9 - 12 days

10 - 21 days



Specimen Requirements


Specimen

Chorionic villus sample (CVS)

Gender by ultrasound is recommended when possible. Please submit maternal blood (sodium heparin or EDTA) for maternal cell contamination (MCC) studies.

If the specimen does not meet minimum DNA quality and quantity requirements, array testing will be performed on cultured material. If cultures are needed, additional days will be required to complete testing. A notification will be sent to the client if cultures are necessary.


Volume

20 to 30 mg (for concurrent array and chromosomes)


Minimum Volume

5 mg for cultured array and chromosomes, 15 mg for direct array and cultured chromosomes


Container

The CVS transport tube (a sterile specimen container with transport medium) is available from Labcorp. Please call customer service at 800-345-4363.


Collection

Specimen is collected in syringe (transabdominal) or catheter (transcervical) and transferred by flushing with the media from the sterile container back into it. After collecting the specimen, wash with sterile saline solution (NaCl 0.95%) containing sodium heparin (two to three drops of sodium heparin in 10 mL of saline). Carefully transfer the specimen, into the CVS transport tube, using a sterile Pasteur pipette or a sterile fine-needle forceps. Be sure to fill transport tubes completely with medium. Samples from twin (multiple) pregnancies should be appropriately labeled and placed in separate transport containers with a separate test request form for each twin.


Storage Instructions

Maintain specimen at room temperature, and transport it to the cytogenetics laboratory immediately. Do not freeze. Refrigerate if sterility is questioned or if sample cannot be shipped within 24 hours.


Causes for Rejection

No villi submitted in specimen; improperly labeled specimen; frozen specimen; specimen placed in fixative


Test Details


Use

The test allows prenatal detection of chromosomal aneuploidy, and is used to rule out tetraploidy and rearrangements not detected by array, such as balanced translocations and inversions. It also helps to clarify array abnormalities to determine if a structural rearrangement, marker, or isochromosome is present. Array can only provide copy number imbalances and cannot determine structure of an abnormality. The SNP assay will detect chromosomal imbalances that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent.


Limitations

This SNP assay does not detect balanced rearrangements and may not detect low level mosaicism. This SNP assay does not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes that only contain heterochromatin or tetraploidy.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Five-cell G-Band Chromosome analysis. SNP microarray analysis is performed using the Cytoscan® HD platform, which uses more than 743,000 SNP probes and 1,953,000 NPCN probes with a median spacing of 0.88 kb.


References

Coppinger J, Alliman S, Lamb AN, et al. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn. 2009 Dec; 29(12):1156-1166.19795450
Wapner R. A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and higher risk prenatal diagnosis. Am J Ob Gyn. 2012 Jan; (Suppl). Abstract 1.

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