• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 347335), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), epidermolysis bullosa simplex with myasthenic syndrome (EBSMS) (PMID: 21263134), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). It is also associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).

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Invitae tests that include this gene:

Pathogenic variants in PLEC have been estimated to cause as much as 8% of clinical cases of epidermolysis bullosa. The percentage of clinical cases of limb girdle muscular dystrophy caused by pathogenic variants in PLEC is unknown.

The PLEC gene encodes Plectin 1, an important structural element of the cell. Plectin binds intermediate filaments, actin microfilaments and microtubules and forms links between these cytoskeletal proteins and other cellular components.

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
PLEC NM_000445.4; NM_201378.3; NM_201384.2