Medical Genetics Test Details
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|Chromosomal Microarray Analysis - HR + SNP Screen (Comprehensive)|
|Test Information:||Chromosomal Microarray Analysis - Comprehensive (CMA-Comprehensive) combines both CMA-HR and CMA-SNP into one array. The new 400k custom designed CMA-Comprehensive microarray (v10.1) now targets over 4,200 genes at the exon level. In addition to exon level copy number, this array also includes 60,000 probes used for SNP analysis for the detection of uniparental disomy (UPD) and absence of heterozygosity (AOH). The breakdown of the new targeted genes added is a follows:
41 clinically relevant genes that have been published in the last 24 months
742 genes that are available as a clinical test in the GeneTest database
804 X-linked genes
276 nuclear mitochondrial and candidate genes
232 autoimmune genes
316 OMIM autosomal dominant morbid genes
100 predicted haploinsufficient genes
153 genes associated with autism
186 candidate genes associated with epilepsy
44 genes associated with ADHD
These new genes are in addition to the previously 1,700 targeted genes associated with intellectual disability, seizure disorders, autism, heart defects, etc.
Product of Conception(POC) tests should be requested using the Cytogenetics - Products of Conception Requisition
Results are analyzed using quantitative imaging methods and analytical software to assist in identifying each targeted-DNA sequence as loss of copy number (deletion), gain of copy number (duplication) or normal copy number. This technology has been validated in our laboratory on many patients with known microdeletions/duplications and other unbalanced karyotypes detected by traditional cytogenetic methods. CMA is limited to detection of gain or loss of genomic material. It will not detect low level mosaicism, balanced translocations, inversions, or point mutations that may be responsible for the clinical phenotype. This array will also detect uniparental isodisomies and absence of heterozygosity (AOH). AOH less than 10Mb in size will not be reported. The detection rate of heterodisomies is currently not known for this assay.
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:||14 days|
|List Price:||*For Insurance or Institutional Prices, please call.|