Table 3.

Molecular Genetic Testing Used in ADPKD

Gene 1Proportion of ADPKD Attributed to Pathogenic Variants in GeneProportion of Probands with a Pathogenic Variant 2 Detectable by Method
Sequence analysis 3Gene-targeted deletion/duplication analysis 4
PKD1 ~78%~97% 5~3%
PKD2 ~15%~97% 5~3%
ALG5 <0.5%>95%None reported 6
ALG9 <0.5%>95%None reported 6
DNAJB11 <0.5%>95%None reported 6
GANAB <0.5%>95%See footnote 7.
IFT140 1%-2%>95%None reported 6
Unknown~5%NA

NA = not applicable

1.

See Table A. Genes and Databases for chromosome locus and protein.

2.

See Molecular Genetics for information on variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants. Specific analysis is required to detect exon or whole-gene deletions/duplications. For issues to consider in interpretation of sequence analysis results, click here.

4.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. Due to the segmental duplication of PKD1, such analysis may require specific methods that detect large rearrangements, such as multiplex ligation-dependent probe amplification (MLPA) [Consugar et al 2008, Cornec-Le Gall et al 2013] or chromosomal microarray (CMA) that includes this gene/chromosome segment.

5.
6.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

7.

A deletion including GANAB was found in an individual with ADPKD and multiple liver cysts [Wilson et al 2020].

From: Polycystic Kidney Disease, Autosomal Dominant

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.