Via SNP microarray technology, the Clinical Cytogenomics Laboratory offers whole genome copy number and zygosity analyses as well as deletion and duplication analysis of a targeted gene panel.
We submit our variants to ClinVar! (Submissions can be reviewed here)
Cytogenomic microarray analysis, also called 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 cytogenomic microarray analysis services: Constitutional CMA and Neoplasia CMA.
When needed, we can do the work of obtaining prior insurance authorization, to determine whether a CMA is a covered benefit under a patient’s insurance plan. To take advantage of this service, download and fill out the CPDx INSURANCE VERIFICATION FORM. Contact Sheryle Stoddart, Pre-Authorization Specialist, at (206) 221-1274 or firstname.lastname@example.org with any questions.
CMA is also available to researchers through our laboratory for both constitutional and neoplasia samples.
We support the Collagen Diagnostic Laboratory by providing microarray-based testing for copy number changes in genes relevant to hereditary conditions affecting connective tissues. (See CDL deletion/duplication analysis.)
Our laboratory also offers a PCR-based test for deletions of the Y chromosome causing male infertility.
The Laboratory Director and Laboratory Genetic Counselor are available for pre- and post-test consultation and interpretation.