21 - 28 days
Test Updated:
MECS
MECP2 Sequencing
MECSS
MECP2 sequencing Shadow
MECP2 Mutation Analysis
Autism / Intellectual Disability
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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….
