Associated disorders

The GJA1 gene is associated with autosomal dominant forms of hypoplastic left heart syndrome (MedGen UID: 57746), atrioventricular septal defect (MedGen UID: 342900), oculodentodigital dysplasia (MedGen UID: 167236), and syndactyly type 3 (MedGen UID: 396117), as well as autosomal recessive craniometaphyseal dysplasia (MedGen UID: 387837).

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Invitae tests that include this gene:

Gap junctions are pores in the cytoplasmic membrane that allow for rapid diffusion of small molecules between adjacent cells in a tissue. This allows for efficient communcation between groups of cells, and nearly all solid tissues have gap junctions. The GJA1 gene encodes connexin 43, a member of the connexin family of structural proteins that make up the gap-junction pore.

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
GJA1 NM_000165.4