Test Overview
Test Methodology

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.

Test Usage

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.

Reference Range *

Interpretive report provided.

Test Limitations

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
Days Set Up
Monday - Friday
Analytic Time

21 - 28 days

Soft Order Code
MECS
MiChart Code
MECP2 (Rett Syndrome) Gene Sequencing
Synonyms
  • MECS
  • MECP2 Sequencing
  • MECSS
  • MECP2 sequencing Shadow
  • MECP2 Mutation Analysis
  • Autism / Intellectual Disability
Laboratory
MMGL
Section
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

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….

Lavender Top Tube
Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood
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.

Billing
CPT Code
81302
Fee Code
DA016
Pro Fee CPT
G0452-26
Prior Authorization
The Prior Authorization form is required for this test. Click here to download the PDF.
NY State Approved
No