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

Test Number 511555
Test number copied
CPT

81229; 88235; 88261; 88280
Synonyms
  • CVS Chromosome Five-cell Count Plus Microarray (Reveal®)

Test Details

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.

Result Turnaround Time

10 - 21 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

For more information, please view the literature below.

Chromosome Microarray: A New High-density Allele-specific Diagnostic Platform

SNP Microarray Prenatal POC Clinical Questionnaire

Reveal℠ SNP Microarray: Pediatric

Reveal℠ SNP Microarray: Pediatría

Reveal℠ SNP Microarray: Revealing Answers to Complex Questions

Test Includes

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

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.

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.

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.

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 Instructions

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

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 11502-2
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
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510193
Result Code NameCells Counted
UofM
Result LOINC64089-6
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510194
Result Code NameCells Analyzed
UofM
Result LOINC64086-2
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510196
Result Code NameCells Karyotyped
UofM
Result LOINC64085-4
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510197
Result Code NameGTG Band Resolution
UofM
Result LOINC64087-0
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510199
Result Code NameCytogenetic Diagnosis
UofM
Result LOINC33774-1
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510994
Result Code NameCytogenetic Interpretation
UofM
Result LOINC64088-8
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510202
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510996
Result Code NameDirector Review:
UofM
Result LOINC48672-0
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code512123
Result Code NamePDF
UofM
Result LOINC11502-2
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510103
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510104
Result Code Name# of Genotyping Targets
UofM
Result LOINCN/A
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510105
Result Code NameArray Type
UofM
Result LOINCN/A
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510106
Result Code NameDiagnosis
UofM
Result LOINC48000-4
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510107
Result Code NameInterpretation
UofM
Result LOINC62365-2
Order Code511555
Order Code NameCVS Chrom 5 Cell Cnt + CMA
Order Loinc
Result Code510108
Result Code NameDirector Review
UofM
Result LOINC48672-0