Associated disorders

The MECP2 gene is associated with X-linked dominant Rett syndrome/atypical Rett syndrome (MedGen UID: 48441), Angelman syndrome (MedGen UID: 58144), X-linked recessive syndromic mental retardation (MedGen UID: 368466) and Lubs X-linked mental retardation syndrome (MedGen UID: 337496).

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Pathogenic variants in MECP2 are associated with 95% of Rett syndrome, 75% of atypical Rett syndrome and 1.5% of Angelman syndrome.

DNA is organized into chromatin to allow for efficient and tightly regulated gene expression in cells. The MECP2 gene encodes a protein that binds to and stabilizes methylated (transcriptionally silent) DNA. It also both upregulates and downregulates transcription of many genes.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MECP2 NM_004992.3, NM_001110792.1