9/28/2023 0 Comments Precision diagnostics laboratorySo the consumers, since they are not able to come physically to the various collection centers or facilities of diagnostics, they have chosen to look at digital options, so they look for home collection, they look for, you know apps and web based applications that they can use to book home visits, to view their reports, to book any appointments. The laboratory’s special expertise is in DNA content measurements of premalignant diseases of the GI tract, such as Barrett’s esophagus and ulcerative colitis, where the finding of DNA content is associated with elevated cancer risk, and the determination of ploidy in the differential diagnosis of molar pregnancies.We also have to note that this pandemic has put up challenges in terms of how the consumer looks at it. The Flow Cytometry laboratory performs DNA content and cell cycle analyses of solid tissue specimens.For men with infertility, the CGL has PCR-based testing for Y chromosome deletions. Constitutional variants of uncertain clinical significance may either be reported or withheld, by provider request. Abnormalities detected by SNP microarray include chromosome deletions, chromosome duplications and amplifications, copy neutral absence of heterozygosity (AOH) due to uniparental disomy (UPD) or identity by descent, and loss of heterozygosity (LOH) due to neoplastic transformation. The CGL also provides chromosomal SNP microarray analysis for both constitutional disorders and cancers. brain cancer, color concer) or hematological malignancies, without prior knowledge of the fusion partners or the breakpoints of the translocations. The Clinical Genomics Laboratory offers FusionPlex® to detect gene fusions associated with solid tumors (e.g. ![]() ACMG guidelines for incidental findings are instituted to allow families to learn about variants in medically actionable genes with pathogenic potential if they so choose. Panel tests, developed by experts in medical genetics and target specialties are continually updated with the identification of new pathogenic genes. Exome analysis can be used to identify disease-causing sequence variants in individual or extended families.
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