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MTMR2

Alias

CMT4B; CMT4B1

Associated disorders

The MTMR2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1) (MedGen UID: 321947).

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MTMR2

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Invitae tests that include this gene:

MTMR2 is a rare cause of CMT4, and the percentage of cases attributed to pathogenic variants in MTMR2 is unknown.

The gene MTMR2 encodes the myotubularin-related protein 2. This enzyme is a phosphatase for phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate, and MTMR2-deficient mice show progressive neuropathy accompanied by myelination defects.

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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

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
MTMR2 NM_016156.5