Medical Genetics Test Details
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|Chromosomal Microarray Analysis - CytoScan HD SNP Array|
|Test Information:||This test code (8650) should be used for NON-TUMOR samples only. To order this test on tumor samples, please see test code #9515.
Chromosomal Microarray Analysis (CytoScan HD) is a combined targeted and whole genome array designed and produced by Affymetrix. This array contains ~1,700,000 oligo probes and 750,000 SNP probes that detect copy number variations (CNVs), absence of heterozygosity (AOH), and segmental or whole chromosome uniparental isodisomy. This array covers approximately 18,000 RefSeq genes at an average of 1 probe per 3 Kb and the backbone at an average of 1 probe per 5 Kb.
This test has been validated in our laboratory on samples with known clinically relevant CNVs and AOH detected on another chromosome microarray platform. The array is designed to detect losses and gains representing all classic deletion/duplication syndromes and absence of heterozygosity (AOH). This assay will not detect low level mosaicism, balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype.
AOH less than 5 Mb in size will not be reported.
For information regarding CMA parental studies, please review the following document titled CMA Parental Studies Policy.
|Sample & Shipping Information|
|Requirements:||Draw blood in both Sodium Heparin (green-top) tube(s) and an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 1-2 cc (Infant< 2 years).|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs.
|Turn Around Time:||28 days|
|List Price:||*For Insurance or Institutional Prices, please call.|