Chromosome Analysis With Reflex to SNP Microarray−Pediatric (Reveal®)

Also known as: aCGH, CGH, Chromosome RFX Microarray Pediatric/Adult, High Resolution G-Banding, Prometaphase Analysis

Clinical Use

Use

Detects microscopically visible chromosomal abnormalities and, if normal, SNP array reflex 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

The SNP assay does not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes contained entirely of heterochromatin, or tetraploidy. It was developed and its performance characteristics determined by LabCorp, though not FDA cleared or approved. It cannot rule out all subtle rearrangements nor congenital anomalies due to alternative etiologies outside of detectable chromosomal changes.

Test Details

Methodology

Chromosomal / Cytogenetics (SNP Array)

Biomarkers

Genotype (9 genes)

PTPRMRAB12GACAT2MTCL1NDUFV2ANKRD12TWSG1RALBP1PPP4R1

LOINC Codes

Order Codes

62386-8 - Chrom anl summary pnl

Result Codes

62361-1 - Cells counted
55199-4 - Cells karyotyped.total Bld/T
62360-3 - Cells analyzed
62358-7 - ISCN band level Ql
62356-1 - Chrom analy result (ISCN)
62357-9 - Chrom analy overall interp-Imp
48002-0 - Genomic source class
48672-0 - Clinical cytogeneticist Spec

Result Turnaround Time

14-25 days

Specimen

Whole Blood

Volume

5 mL (adults), 2 mL (neonates)

Minimum Volume

2 mL

Container

Green-top (sodium heparin) tube

Collection Instructions

Using sterile technique, collect 5 mL of blood into a green-top (sodium heparin) tube or syringe. Invert the tube several times to prevent coagulation. Send the specimen the same day as collected.