ARVC5; ARVD5; EDMD7; LUMA
The TMEM43 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (MedGen UID: 346805). Additionally, the TMEM43 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 7 (EDMD7) (MedGen UID: 765974).
Order this gene as a single gene test.
Invitae tests that include this gene:
TMEM43 pathogenic variants cause arrhythmogenic right ventricular dysplasia-5 (ARVD5), which is prevelant in Newfoundland due to a founder mutation but is very rare in other populations. Test sensitivity is likely low outside of Newfoundland. Pathogenic TMEM43 variants are a rare cause of ARVC and are associated with an unknown percentage of clinical cases of DCM and EDMD-like myopathy.
TMEM43 encodes transmembrane protein 43, also known as LUMA, an inner nuclear membrane-localized protein that interacts with both emerin and lamin. TMEM43 may function as an organizer of the nuclear lamina.
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|