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
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
Pertinent medical findings must accompany the request. In cases of an abnormal array with unknown clinical significance, parental testing may be conducted at no charge based on specific criteria outlined in the child's array results. Follow-up parental testing due to autism susceptibility regions or known microdeletions/microduplications will incur charges. Special storage and transport instructions are necessary to maintain specimen integrity. Inquire within for forms and additional coordination details if required.
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.
Methodology
Chromosomal / Cytogenetics (SNP Array)
Biomarkers
LOINC Codes
- 62386-8
- 62361-1
- 55199-4
- 62360-3
- 62358-7
- 62356-1
- 62357-9
- 48002-0
- 48672-0
Result Turnaround Time
14-25 days
Related Documents
For more information, please review the documents below
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.
Storage Instructions
Maintain specimen at room temperature. Refrigerate if delayed, but do not freeze.
Causes for Rejection
Suitability will be determined upon receipt by the Cytogenetics laboratory. Improper anticoagulant or frozen specimens cannot be processed.