Quantity not sufficient for analysis; hemolyzed specimens;
frozen specimens
Use
This test is used to detect chromosomal imbalance that may
be present in: newborn or children with developmental
delay/congenital anomalies/autism. UPD can also be
detected in most cases.
Limitations
This procedure may be considered by Medicare and other
carriers as investigational and, therefore, may not be
payable as a covered benefit for patients.
This assay will not detect balanced rearrangements and low
level mosaicism.
Methodology
Whole genome SNP based copy number microarray analysis
targeting 1.8 million copy number and allele specific
genome sites
References
Shaikk TH.
Genetics in Medicine 9(9):617-625 (2007)
