Test Code: CMAPRE

Genes: Whole Genome (0 genes)

Sample Type: Amniotic Fluid / CVS / 2-T25 flasks of cultured fibroblasts; or fresh fibroblast biopsy

Method: Chromosomal microarray analysis

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1600

Description:
The Affymetrix CytoScan 750K Array assay, performed with genomic DNA extraction, is used to detect small copy number gains and losses across the entire genome. Genomic imbalances are reported when deletions exceed 200 kb or duplications exceed 500 kb, unless the affected region is clearly recognized as a benign copy number polymorphism in multiple independent studies. Regions of homozygosity (ROH) are reported when they are larger than 10 Mb. Deletions smaller than 200 kb and duplications smaller than 500 kb may not be reported unless they involve genomic regions with established clinical significance.