Associated disorders

The PKD2 gene is associated with autosomal dominant polycystic kidney disease type 2 (MedGen UID: 442699).

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Invitae tests that include this gene:

An estimated 15% of ADPKD is caused by pathogenic variants identified in PKD2.

The PKD2 gene encodes the polycystin-2 protein, a transmembrane protein spanning the cell membrane of kidney cells. It functions as a calcium-permeable cation channel, which is involved in calcium transport and signaling. Polycystin-2 and polycystin-1, the proteins encoded by PKD1, are thought to form a complex in the primary cilia of the renal tubules, which may regulate the flow of fluid across the tubule.

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
PKD2 NM_000297.3