Reveal® SNP Microarray Pediatric

CPT 81229
Synonyms
  • aCGH
  • CGH
  • CMA
  • Microarray Pediatric/Adult
  • Reveal® SNP Microarray−Pediatric
  • WGA

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.

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.

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.

Specimen Requirements

Information on collection, storage, and volume

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