Array CGH (aCGH)
Comparative Genomic Hybridization
ARRAY CGH 2 (POST-NATAL)
ARRAY CGH (POST-NATAL)
Generic Peds Genetics Test
BIOCH GEN REPORT
BIOCHEMICAL GENETICS REPORT
Array CGH (Post-Natal) Shadow
Array CGH 2 (Post-Natal) Shado
Chromosomal Microarray Shadow
SNP CMA Analysis
SNP CMA Analysis Shadow
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This Chromosomal Microarray (CMA) analysis uses the Illumina CytoSNP-850K array. The Illumina CytoSNP-850K chromosomal microarray uses approximately 850,000 SNPs and oligonucleotide probes to combine genotype and intensity information to detect various types and sizes of structural genomic variation in the human genome. Patient DNA is isolated, linearly amplified, enzymatically fragmented, and hybridized to array probes. Each hybridized array probe is extended with tagged terminating nucleotides. The extended probes are stained, and the array is washed, scanned, and the results are analyzed and interpreted. If a reportable genomic copy number change is detected, a CMA aberration confirmation by rqPCR analysis maybe performed to confirm the array result.
This Chromosomal Microarray (CMA) assay detects copy number changes in genomic DNA. The American College of Medical Genetics (ACMG) recommends chromosomal microarray (CMA) as the first-line genetic test for all children with autism spectrum disorders and other developmental / intellectual disabilities or birth defects (Manning et al. Gene Med 12(11):742-745, 2010). By using CMA testing, a patient’s genomic DNA is examined for gains or losses that are too small to be detected by standard G-banded chromosome studies. The increased resolution of CMA technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. Therefore, this CMA assay is a more cost effective alternative to sequential or multiplex FISH for subtelomeric deletions. This CMA assay is used to detect various types and sizes of structural genomic variation in the human genome including deletions, duplications, regions of SNP homozygosity, Uniparental Disomy (UPD), and mosaicism. This CMA analysis is recommended to test patients with Mendelian conditions or syndromes, developmental delays, cognitive impairments, autism spectrum disorders, dysmorphic features, birth defects, congenital anomalies, genomic disorders and germline cancers.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Collect specimen in a lavender top tube. Send intact lavender top tube refrigerated within 24 - 48 hours of collection; specimens MUST be received by the laboratory within 48 hours of collection. Obtaining informed consent from the patient prior to testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….