SNP Microarray−Pediatric (Reveal®)
Also known as: aCGH, CGH, CMA, Microarray Pediatric/Adult, Reveal® SNP Microarray−Pediatric
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
Not provided.
Limitations
This assay does not detect balanced chromosomal rearrangements, mosaicism below 10%, marker chromosomes containing only heterochromatin, or cases of tetraploidy. It also does not report CNVs cited in the Database of Genomic Variants. Truly balanced chromosome alterations go undetected by this analysis.
Methodology
Microarray
Biomarkers
LOINC Codes
- 94087-4 - Chrom analy Bld/T Microarray
- 31208-2 - Specimen source
- 62378-5 - Chrom copy # change
- 62376-9 - Microarray platform version
- 62357-9 - Chrom analy overall interp-Imp
- 48672-0 - Clinical cytogeneticist Spec
- 11502-2 - Laboratory report
Result Turnaround Time
14-17 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
Green-top (heparin) tube (preferred), yellow-top (ACD) tube or lavender-top (EDTA) tube
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; buccal kits with open envelopes; DNA tubes not extracted at CLIA-certified lab
Other tests from different labs that may be relevant