GJA3

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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
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Overview

Alias

CTRCT14; CX46; CZP3

Associated disorders

The GJA3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 356152)

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GJA3

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Invitae tests that include this gene:

Invitae Congenital Cataracts Panel 32 genes

Gene function

The GJA3 gene encodes the gap junction protein alpha 3. The GJA3 protein forms the connexin subunits of the ocular lens gap junctions. Gap junctions act as channels in between neighboring cells to allow diffusion of molecules between cells to maintain ionic and water balance which are important for transparency and optical properties of the lens (PMID: 12808044).

References

Nielsen, PA, et al. Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1). Mol. Biol. Cell. 2003; 14(6):2470-81. PMID: 12808044

Assay

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.