Days Set Up
Monday - Friday
Analytic Time

21 - 28 days

MiChart Code
MECD Del/Dup Analysis
Soft Order Code
MECD

Test Updated:

Synonyms

MECP2 Del/Dup Shadow
MECD
MECP2 Del/Dup Analysis
Rett Syndrome
MECDS
MECP2 Deletion
MECP2 Duplication
MECP2 Gene Deletion and Duplication Analysis
Autism / Intellectual Disability

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Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

Learn about how to properly label and where to ship specimens.

Order Kits and Supplies

MLabs provides all the supplies necessary for the collection of specimens.

Test FAQ

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Test Overview

Test Methodology

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.

Test Usage

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).

Reference Range

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Onsite

Collect specimen in a lavender top tube. Send intact specimen to the lab within 24 hours. 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 by contacting the MMGL Molecular Genetics Laboratory at 615-2429 during business hours Monday - Friday or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Collection Offsite

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

Billing Information

CPT Code
81304
Pro Fee Code
 
LOINC
 

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.