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

CPT: 81229; 88230; 88260; 88280
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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)


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.


Expected Turnaround Time

14 - 17 days


Related Information



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


Test Details


Use

This test 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

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

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 51967-8
511535 Blood Chrom 5 Cell Cnt + CMA 510004 Specimen Type 31208-2
511535 Blood Chrom 5 Cell Cnt + CMA 510005 # of Genotyping Targets 62378-5
511535 Blood Chrom 5 Cell Cnt + CMA 510006 Array Type 62376-9
511535 Blood Chrom 5 Cell Cnt + CMA 510007 Diagnosis 62357-9
511535 Blood Chrom 5 Cell Cnt + CMA 510109 Interpretation 62357-9
511535 Blood Chrom 5 Cell Cnt + CMA 510035 Director Review: 48672-0

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