Associated disorders

Pathogenic variants in the PMP22 gene are associated with autosomal dominant Charcot-Marie-Tooth disease type 1A (CMT1A) (MedGen UID: 75727) and 1E (CMT1E) (MedGen UID: 348419) as well as autosomal dominant hereditary neuropathy with liability to pressure palsies (HNPP) (MedGen UID: 98291).

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An estimated 70%-80% of CMT1 is caused by full PMP22 gene duplications, and approximately an additional 1% is caused by PMP22 sequence changes. PMP22 is the only gene known to be associated with HNPP. Among patients with a positive personal and family history of HNPP, >80% have the common deletion encompassing the PMP22 gene and a minority of patients have other types of pathogenic variants in PMP22.

The PMP22 gene encodes an integral membrane protein called peripheral myelin protein 22. The PMP22 protein is a major component of myelin and is produced in the Schwann cells of the peripheral nervous system.

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
PMP22 NM_000304.3