{"id":1230,"date":"2018-12-20T16:47:00","date_gmt":"2018-12-20T16:47:00","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/pathology\/?page_id=1230"},"modified":"2018-12-20T16:47:00","modified_gmt":"2018-12-20T16:47:00","slug":"chromosomal-microarray-cytoscan-hd-assay","status":"publish","type":"page","link":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosomal-microarray-cytoscan-hd-assay\/","title":{"rendered":"Chromosomal Microarray\u00a0(CytoScan\u00a0HD Assay)"},"content":{"rendered":"

[vc_row][vc_column width=”2\/3″][vc_column_text]<\/p>\n

Test Details<\/p>\n

Clinical Significance<\/strong><\/p>\n

A chromosomal microarray can detect chromosomal variations (gain and loss of genomic material) at higher resolution than a routine karyotype.\u00a0\u00a0The\u00a0CytoScan\u00ae\u00a0HD assay provides a genome-wide approach that enables high-resolution DNA copy number analysis to detect gains, losses, loss of\u00a0heterozygosity\u00a0(LOH), regions identical by descent, and uniparental disomy (UPD) on a single array1<\/sup>.<\/p>\n

Clinical Background<\/strong><\/p>\n

The ability of chromosomal microarray to detect submicroscopic genomic abnormalities has revolutionized the clinical diagnostic approach to individuals with genetic conditions. Over the past decade, many pivotal advances in the understanding of the genetics of hematologic diseases have emerged from SNP array analysis. SNP arrays afford useful platforms for discovering disease alleles that can shed new light on the pathobiology of\u00a0leukemias\u00a0and other hematologic malignancies2-5<\/sup>. Microarray technology is prenatal diagnosis is emerging and promises higher sensitivity for detecting genomic abnormalities in fetuses with ultrasound abnormalities and other indications2-6<\/sup>.<\/p>\n

Methods<\/strong><\/p>\n

The\u00a0CytoScan\u00ae HD\u00a0Assay involves DNA extraction, hybridization to microarray containing 2.69 million functional markers across the entire genome, thus ensuring all genes are represented.\u00a0\u00a0The markers contain both copy number and single nucleotide polymorphism probes, thus permitting elucidation of both allelic imbalances and loss of\u00a0heterozygosity\/absence of\u00a0heterozygosity\u00a0(LOH\/AOH), both of which increase the risk of recessive disorders.\u00a0\u00a0Data analysis is done by American Society of Clinical Pathology (ASCP) certified technologists with final interpretation by American Board of Medical Genetics certified laboratory director.<\/p>\n

Interpretation of Results<\/strong><\/p>\n

The morphologic interpretation and correlation of results on all cases is performed by a board-certified doctoral level scientist (laboratory director).\u00a0<\/strong>The final report identifies the chromosomal sex and if any genomic imbalances detected.\u00a0\u00a0If abnormalities are present, they are explained in a paragraph which helps to clarify and correlate clinical findings with pathological morphology. Further testing (parental studies, additional molecular\/FISH studies) is recommended to support or confirm chromosome aberrations or when inconclusive results are found.\u00a0\u00a0References are included in the report to help the referring physician with interpretation, which include books or journals that contain appropriate information.<\/p>\n

References:<\/strong><\/p>\n

    \n
  1. www.affymetrix.com\/cytoscanhd<\/a><\/li>\n
  2. Mullighan\u00a0CG et al.,\u00a0Nature<\/em>\u00a0446(137):758-764, 2007.<\/li>\n
  3. Delhommeau\u00a0F et al.,\u00a0New England Journal of Medicine<\/em>\u00a0360(22):2289-2301, 2009.<\/li>\n
  4. Langemeijer\u00a0SM et al.,\u00a0Nature Genetics<\/em>\u00a041(7):838-842, 2009.<\/li>\n
  5. Schwartz S.,\u00a0Clinics in Laboratory Medicine<\/em>, 31(4):581-594, 2011.<\/li>\n
  6. Schaaf\u00a0et al.,\u00a0The<\/em>\u00a0Annual Review of Genomics and Human Genetics<\/em>\u00a012:25-51, 2011.<\/li>\n<\/ol>\n

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    [vc_row][vc_column width=”2\/3″][vc_column_text] Test Details Clinical Significance A chromosomal microarray can detect chromosomal variations (gain and loss of genomic material) at higher resolution than a routine karyotype.\u00a0\u00a0The\u00a0CytoScan\u00ae\u00a0HD assay provides a genome-wide approach that enables high-resolution DNA copy number analysis to detect gains, losses, loss of\u00a0heterozygosity\u00a0(LOH), regions identical by descent, and uniparental disomy (UPD) on a single […]<\/p>\n","protected":false},"author":161,"featured_media":0,"parent":615,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-templates\/child-page.php","meta":{"footnotes":""},"class_list":["post-1230","page","type-page","status-publish","hentry"],"yoast_head":"\nChromosomal Microarray\u00a0(CytoScan\u00a0HD Assay) - Department of Pathology and Laboratory Medicine<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosomal-microarray-cytoscan-hd-assay\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Chromosomal Microarray\u00a0(CytoScan\u00a0HD Assay) - 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