MECP2 Gene Analysis Dup/Delet Variant
Label Mnemonic: RETTD
Epic Lab Code: LAB3985
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Collection Medium:
or
Pink top tube 6 mL (K2-EDTA) Lavender top tube 3 mL (EDTA)
Minimum:
Adult/Child Minimum: Collect ONE 6 mL pink top (EDTA) tube
Infant (less than two years old) Minimum: 3 mL whole blood from lavender (EDTA) tube

Please contact the laboratory for specific requirements for prenatal testing.
Testing Schedule:
Monday through Thursday only, no weekends or holidays.
Turn Around Time:
3 weeks upon receipt at reference laboratory
Comments:
Please print, complete, and submit the following form with the appropriate signatures, the correct sample type and the A-1a Miscellaneous Request:

Molecular Diagnostic Requisition from Baylor College of Medicine (BCM) Medical Genetics Laboratories.

This mailout test requires pathologist approval for orders during inpatient encounters. Mailouts staff will not process order without approval. The pathologist covering mailouts approval can be reached at pager #5379. If approval is given, the name of the pathologist can be selected in the drop-down menu to the right of the approval warning in Epic when ordering the test.
Test Limitations:
Rett syndrome is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene which encodes the Methyl CpG Binding Protein 2 transcriptional repressor. Rett syndrome affects ~1 in 10,000 females with symptoms including loss of speech and purposeful hand use, microcephaly, seizures, ataxia, and stereotypic hand movements. MECP2 mutations manifest a broader spectrum of clinical phenotypes in female and rare male patients, with features overlapping with other mental retardation disorders. Mutations in the MECP2 coding region can be detected by sequence analysis in up to ~85% of Rett cases (see MECP2 Sequencing Analysis). In addition, large MECP2 gene deletions have been identified in approximately 10% of Rett patients. Sequencing has an analytical sensitivity of ~99% for point mutations. Up to ~95% of classic Rett patients have small or large mutations in the MECP2 gene.
Methodology:
Southern Blot
CPT Code:
81304