MLPA probes hybridize to target regions of the MECP2 gene and are amplified by multiplex PCR. The amplification products are analyzed by capillary electrophoresis and copy numbers for these MECP2 target regions are generated.
This test is used to detect the presence of MECP2 (OMIM:300005) deletions and duplications. MECP2 gene deletion and duplication analysis can be performed on patients with negative MECP2 sequence analysis or relatives of a patient with a known MECP2 deletion/duplication mutation. Approximately 30% of patients with Rett syndrome (OMIM:312750) and 7% of patients with atypical Rett syndrome have a deletion mutation within or encompassing the MECP2 gene (Laccone et al., Hum Mutat. 2004; 23:234–44; Archer et al., J Med Genet. 2006; 43:451–6). In addition, MECP2 duplication mutations have been reported in approximately 2.5% of males with severe intellectual disability (Van Esch et al., Am J Hum Genet. 2005; 77:442–53; Lugtenberg et al., J Med Genet. 2006; 43:362–70), approximately 1% in X-linked intellectual disability cases, and rarely in females with severe encephalopathy (Lugtenberg et al., Eur J Hum Genet. 2009; 17:444–53, GeneReviews).
Interpretive report provided.
This assay will not detect point mutations or frame-shift mutations in the MECP2 gene.
21 - 28 days
- MECP2 Del/Dup Shadow
- MECP2 Del/Dup Analysis
- Rett Syndrome
- MECP2 Deletion
- MECP2 Duplication
- MECP2 Gene Deletion and Duplication Analysis
- Autism / Intellectual Disability
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….
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.