Test Overview
The coding exons and associated, adjacent consensus splice sites of the MECP2 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Confirmation of a diagnosis of Rett Syndrome, for carrier testing in families with a known MECP2 mutation, and for analysis for the presence of MECP2 mutations in X-linked mental retardation patients.
Interpretive report provided.
This assay will not detect large deletions in the MECP2 gene or intronic mutations outside the region sequenced in the MECP2 gene. In addition, mutations in other genes associated with Rett Syndrome will not be identified.
Test Details
21 - 28 days
- MECS
- MECP2 Sequencing
- MECSS
- MECP2 sequencing Shadow
- MECP2 Mutation Analysis
- Autism / Intellectual Disability
Specimen Requirements
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….
Additional Information
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.