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

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

  • Amniotic Fluid Chromosome Five-cell Count Plus Microarray

Test Includes

DNA extraction; interpretation; limited five-cell amniotic sample 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.

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

10 - 12 days

10 - 21 days


Related Information



Specimen Requirements


Specimen

Amniotic fluid (for direct array and abbreviated amnio chromosome analysis)

Gender by ultrasound is required. 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

25 mL amniotic fluid for concurrent array and chromosome analysis


Minimum Volume

12 mL amniotic fluid (minimum volume may delay results; cells would need to be cultured for microarray analysis)


Container

Sterile plastic conical tube


Collection

Discard first 2 mL of fluid aspirated to avoid maternal cell contamination. Specimen is collected in a 20-mL sterile syringe and transferred aseptically to sterile tubes to be transported to LabCorp.


Storage Instructions

Maintain specimen at room temperature.


Causes for Rejection

Quantity not sufficient for analysis (<12 mL of amniotic fluid or DNA quantity <20 ng/μL); bloody sample; gestational age <17 weeks


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, 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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