MECP2 Sequencing

Approximately 80% of patients with a diagnosis of Rett syndrome have a mutation detected by DNA sequencing analysis. Of the remaining 20%, a minority will have a deletion as the cause of Rett syndrome, which will be detected by MLPA assay. Duplications involving MECP2 and the neighboring gene L1CAM are associated with severe mental retardation and progressive neurological symptoms in males. This laboratory performs both Sanger sequencing of the MECP2 gene as well deletion/duplication by MLPA.

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Test Code

Turn Around Time
2-3 weeks


CPT Code

Ordering Guidance

In the case of females with features of Rett syndrome, most cases are due to sequence variants. Therefore, sequencing should be ordered first. If sequencing is unrevealing, then deletion/duplication analysis may be considered.
For males, typically there is a deletion or duplication, therefore deletion/duplication should be ordered first followed by sequencing.

If there are questions regarding this test, please contact Client Services at 617-553-5880 or


Genes Covered