Associated disorders

The LMNA gene is associated with a diverse group of disorders affecting skeletal and cardiac muscle including autosomal recessive and dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2) (MedGen UID: 98048) and type 3 (EDMD3) (MedGen UID: 413212), autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 320400), congenital muscular dystrophy (MedGen UID: 413043), and dilated cardiomyopathy (DCM) (MedGen UID: 258500). It is also associated with autosomal recessive Charcot-Marie-Tooth disease type 2B1 (CMT2B1) (MedGen UID: 343064). Additional LMNA-related conditions have also been reported (OMIM: 150330).

Pathogenic variants in LMNA cause an estimated 4-5% of clinical cases of DCM, 45% of cases of autosomal dominant EDMD, 4-10% of LGMD and an unknown percentage of cases of CMT.

The LMNA gene encodes the proteins lamin A and lamin C. These lamins are structural proteins called intermediate filaments; their function is to give strength and stability to cells. Lamin A and C make up part of the scaffolding structure that gives the nucleus of the cell its shape and size.

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
LMNA NM_170707.3