This relative quantitative polymerase chain reaction (rqPCR) assay is used to confirm a patient’s abnormal CMA result(s) and to determine the origins of inheritance of an aberration by testing parental samples. This assay is used to confirm aberration(s) that are too small or that cannot be confirmed by FISH for the patient’s and/or the parental samples. In addition, this rqPCR assay can also be used for a symptomatic sibling(s) to screen for a known familial copy number aberration previously detected by CMA testing at the MMGL-Molecular Genetics Laboratory. There is a separate charge for parental and sibling rqPCR testing.
Interpretive report provided.
This test is not used to confirm an aberrant CMA result that was not detected at the MMGL Molecular Genetics Laboratory or for aberrant CNV regions in which rqPCR probe and primers cannot be designed.
- Aberrant CMA confirmation by rqPCR, Parental Sample
- Aberrant Chromosomal Microarray (CMA) Confirmation by rqPCR
- rqPCR, aberrant familial CMA
- rqPCR CMA confirmation
- rqPCR, aberrant child CMA
- Parental rqPCR
- Aberrant CMA confirmation by rqPCR, Symptomatic Sibling
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic 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….
TaqMan probe and primers are used to amplify and detect a targeted DNA segment so that the copy number of the target can be calculated in comparison to a calibrator DNA sample. The relative copy number of the target region is calculated based on a calibrator copy number of "two" for most genomic regions. By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.