Via chromosomal SNP microarray analysis (CMA) technology, the Clinical Genomics Laboratory offers whole genome copy number and zygosity analysis for both cancer and constitutional (germline) settings.
Sample CMA Reports: Abnormal, Normal, Uncertain Clinical Significance
We submit our variants to ClinVar! (Submissions can be reviewed here)
Chromosomal microarray analysis (CMA) detects chromosome deletions and duplications much smaller than what can be seen with traditional G-banded chromosome analysis (karyotyping) or fluorescence in situ hybridization (FISH). CMA detects large abnormalities in chromosome number, small duplications or amplifications, small deletions, and regions of copy number neutral absence of heterozygosity (AOH) due to uniparental disomy (UPD) or identity by descent and loss of heterozygosity (LOH) that happens with cancer.
We currently offer two clinical chromosomal microarray analysis services: Constitutional CMA and Neoplasia CMA.
CMA is also available to researchers through our laboratory for both constitutional and neoplasia samples.
The Clinical Genomics Laboratory also offers FusionPlex® testing for people with solid tumors (for example, lung cancer, thyroid cancer, brain cancer) and hematological cancers (for example, leukemia).
For men with infertility, our laboratory offers a PCR-based test for deletions of the Y chromosome.
When needed, we can do the work of obtaining prior insurance authorization, to determine whether testing is a covered benefit under a patient’s insurance plan. To take advantage of this service, download, fill out, and submit the relevant test request form (including patient and ordering provider signatures). Contact our pre-authorization specialists at firstname.lastname@example.org with any questions.
The Laboratory Director and Laboratory Genetic Counselor are available for pre- and post-test consultation and interpretation.