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

CPT: Contact CPT coding department at 800-222-7566, ext 6-8400. If additional testing is performed, concomitant CPT codes/charges will apply.
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Test Details

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)

Use

Microarray detects chromosomal imbalance that could be associated with developmental delay and congenital anomalies. Test provides detection of uniparental disomy of any chromosome, the percentage and location of homozygosity, including the degree of identity by descent. 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. 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.

Limitations

This SNP assay does not detect balanced rearrangements and may not detect low-level mosaicism.

Methodology

Whole genome SNP-based copy-number microarray analysis targeting 2.695 million copy-number and allele-specific genome sites from uncultured cells. If DNA yield on uncultured cells is inadequate, analysis will be performed on cultured cells. Five-cell G-band chromosome analysis.

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.

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

CVS transport tube (available from cytogenetics laboratory, call 800-533-0567, ext 4065 or 3300); sterile specimen container with transport medium

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

Clinical Information

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.

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.

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.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511555 CVS Chrom 5 Cell Cnt + CMA 510193 Cells Counted 64089-6
511555 CVS Chrom 5 Cell Cnt + CMA 510194 Cells Analyzed 64086-2
511555 CVS Chrom 5 Cell Cnt + CMA 510196 Cells Karyotyped 64085-4
511555 CVS Chrom 5 Cell Cnt + CMA 510197 GTG Band Resolution 64087-0
511555 CVS Chrom 5 Cell Cnt + CMA 510199 Cytogenetic Diagnosis 33774-1
511555 CVS Chrom 5 Cell Cnt + CMA 510994 Cytogenetic Interpretation 64088-8
511555 CVS Chrom 5 Cell Cnt + CMA 510202 Specimen Type 31208-2
511555 CVS Chrom 5 Cell Cnt + CMA 510996 Director Review: 48672-0
511555 CVS Chrom 5 Cell Cnt + CMA 512123 PDF 80563-0
511555 CVS Chrom 5 Cell Cnt + CMA 510103 Specimen Type 31208-2
511555 CVS Chrom 5 Cell Cnt + CMA 510104 # of Genotyping Targets N/A
511555 CVS Chrom 5 Cell Cnt + CMA 510105 Array Type N/A
511555 CVS Chrom 5 Cell Cnt + CMA 510106 Diagnosis 48000-4
511555 CVS Chrom 5 Cell Cnt + CMA 510107 Interpretation 62365-2
511555 CVS Chrom 5 Cell Cnt + CMA 510108 Director Review 48672-0
511555 CVS Chrom 5 Cell Cnt + CMA 512123 PDF 80563-0

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