Chromosome Five-cell Count plus Microarray (Reveal®), Whole Blood

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

Test Details

Synonyms

  • Abbreviated Blood Chromosome Analysis
  • Microarray, Blood (Reveal®), SNP

Test Includes

DNA extraction; interpretation; limited five-cell high-resolution chromosome analysis (two analyses, one karyotype)

Use

Detects chromosomal imbalance that may be present in newborns or children with developmental delay and congenital anomalies and autism; provides detection of uniparental disomy of any chromosome and the degree of consanguinity as well as the genomic locations of recessive allele risk. Positive evaluation criteria include: DNA copy gain/loss within known clinically significant gene region of 50 Kb or greater or DNA copy number loss >200 kb or gain >500 kb outside known clinically significant regions with at least one OMIM-annotated gene or within a region of clear clinical significance. UPD testing is recommended for patient results demonstrating a long contiguous region of homozygosity in a single chromosome >20 Mb interstitially or >10 Mb telomerically (15 and 8 Mb, respectively, for imprinted chromosomes). Contiguous homozygosity >10 Mb within multiple chromosomes suggests common descent. These regions of potential recessive allele risk are designated. Abbreviated chromosome analysis detects balanced rearrangements 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, low level mosaicism or marker chromosomes that only contain heterochromatin.

Methodology

Whole genome SNP-based copy-number microarray analysis targeting 2.695 million copy number and allele-specific genome sites

Specimen Requirements

Specimen

Whole blood

Volume

4 mL

Minimum Volume

2 mL (neonatal) (Note: This volume does not allow for repeat testing.)

Container

Green-top (heparin) tube (preferred); yellow-top (ACD) tube is acceptable

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Hemolysis; gross contamination; clotted specimen; frozen specimen; fixed specimen; improper or too much anticoagulant

Clinical Information

Special Instructions

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

This test may also be performed on adults. When a child tested with this assay is found to have an abnormal array of unknown clinical significance that may be clarified through parental testing, there will be no charge associated with the follow-up parental testing that is based on the child's results. All other parental follow-up testing will be charged, including (but not limited to) autism susceptibility regions, known microdeletions/microduplications, autosomal recessive deletions/duplications, and large copy-number changes possible and likely pathogenic significance. The child's abnormal array results will indicate whether parental testing will be performed at no charge and will include the appropriate parental follow-up test number. For parental follow-up testing for arrays not performed at LabCorp, call 800-345-4363 to speak to a genetic counselor.

References

Shaikh TH. Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies. Genet Med. 2007 Sep; 9(9):617-625.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511535 Blood Chrom 5 Cell Cnt + CMA 052101 Cells Counted 62361-1
511535 Blood Chrom 5 Cell Cnt + CMA 052102 Cells Karyotyped 55199-4
511535 Blood Chrom 5 Cell Cnt + CMA 052103 Cells Analyzed 62360-3
511535 Blood Chrom 5 Cell Cnt + CMA 052116 GTG Band Resolution Achieved 62358-7
511535 Blood Chrom 5 Cell Cnt + CMA 052115 Cytogenetic Diagnosis 62365-2
511535 Blood Chrom 5 Cell Cnt + CMA 052039 Cytogenetic Interpretation 50619-6
511535 Blood Chrom 5 Cell Cnt + CMA 052157 Specimen Type 31208-2
511535 Blood Chrom 5 Cell Cnt + CMA 052041 Director Review: 48672-0
511535 Blood Chrom 5 Cell Cnt + CMA 512123 PDF 80563-0
511535 Blood Chrom 5 Cell Cnt + CMA 510004 Specimen Type 31208-2
511535 Blood Chrom 5 Cell Cnt + CMA 510005 # of Genotyping Targets N/A
511535 Blood Chrom 5 Cell Cnt + CMA 510006 Array Type N/A
511535 Blood Chrom 5 Cell Cnt + CMA 510007 Diagnosis 62357-9
511535 Blood Chrom 5 Cell Cnt + CMA 510109 Interpretation 62365-2
511535 Blood Chrom 5 Cell Cnt + CMA 510035 Director Review: 48672-0
511535 Blood Chrom 5 Cell Cnt + CMA 512123 PDF 80563-0

For Providers

Please login to order a test.

 

© 2018  Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2018, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf