SNP Microarray−Pediatric (Reveal®)

CPT: 81229
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Synonyms

  • aCGH
  • CGH
  • CMA
  • Microarray Pediatric/Adult
  • Reveal® SNP Microarray−Pediatric
  • WGA

Special Instructions

Pertinent medical findings must accompany the test request form. Call 800-345-4363 to request forms, or photocopy the Clinical Questionnaire for SNP Microarray 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 with 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.

Contact your local LabCorp branch supply department to order buccal swab kits using PeopleSoft N° 3177.


Expected Turnaround Time

14 - 17 days




Specimen Requirements


Specimen

Whole blood or LabCorp buccal swab kit (Buccal swab collection kit contains instructions for the use of a buccal swab.)


Volume

4 mL or LabCorp buccal swab kit


Minimum Volume

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


Container

Green-top (heparin) tube (preferred), yellow-top (ACD) tube, or lavender-top (EDTA) tube or LabCorp buccal swab kit.


Storage Instructions

Maintain specimen at room temperature.


Causes for Rejection

Quantity not sufficient for analysis; wet buccal swab; gel-separator tubes; microtainer tubes and fixed cell pellets


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 rearrangement, 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.


Additional Information

Positive evaluation criteria include: DNA copy gain/loss within known clinically significant gene region of 50 kb or greater. 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.


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):617-625.17873650

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
510002 Chromosome Microarray 510004 Specimen Type 31208-2
510002 Chromosome Microarray 510005 # of Genotyping Targets N/A
510002 Chromosome Microarray 510006 Array Type N/A
510002 Chromosome Microarray 510007 Diagnosis 62357-9
510002 Chromosome Microarray 510109 Interpretation 62365-2
510002 Chromosome Microarray 510035 Director Review: 48672-0
510002 Chromosome Microarray 512123 PDF 51967-8

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