DNA is analyzed for the presence of a specific mutation, aberration or variation using an appropriate method; applicable methods include fluorescent dideoxynucleotide sequencing, various SNP-detection methods, and copy number detection using semi-quantitative or quantitative PCR, or blotting.
This assay can be used to detect and/or confirm the presence of a specific mutation, aberration or variation previously detected in the patient or a family member in a research laboratory.
Interpretive report provided.
This is a custom assay, which is designed and validated for a specific mutation in a specific DNA segment. Thus, this assay may not detect other aberrations in the segment being analyzed or changes in other regions of the genome that may be causative.
6 - 12 weeks
Physicians must contact the MMGL-MGL laboratory at 734-615-2429 prior to sending samples for new testing. A known positive control sample must also be provided. Collect specimen in a lavender top tube. Send intact whole blood specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Alternatively, send 5-10 mcg of highly purified genomic DNA (at a concentration of > or = 0.05 mg/mL) in a 1 X T.E (pH 7.5-8) buffer. DNA specimens must pass MMGL quality control analysis before use. Obtaining informed consent from the patient (or legally authorized representative) and ordering physician prior to testing is MANDATORY for this test. 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….
This analysis may produce results that are complex. Hence medical genetic evaluation and genetic counseling prior to and after testing, to explain the possible results and the implications, is strongly recommended. 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.