Polycystic Kidney Disease

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Recurrence risk
  • Assist with management/treatment decisions

*Large deletions encompassing the PKD1 gene and the adjacent TSC2 gene would also be detected by this test.

  • MLPA


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs


81406x1; 81479x1
* For price inquiries please email zebras@genedx.com


  1. Torres VE and Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney International. 2009 Jul 76(2):149-68. (PMID: 19455193)
  2. Chebib FT and Torres VE. Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016. American Journal of Kidney Diseases 2016 May 67(5):792-810. (PMID: 26530876)
  3. Consugar MB et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney International. 2008 Dec 74(11):1468-79. (PMID: 18818683)
  4. Neumann HP et al. Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes. International Urology and Nephrology. 2012 Dec 44(6):1753-62. (PMID: 22367170)
  5. Tan AY et al. Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism. Clinical Genetics. 2015 Apr 87(4):373-7. (PMID: 24641620)
  6. Vujic M et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. Journal of the American Society of Nephrology. 2010 Jul 21(7):1097-102. (PMID: 20558538)
  7. Gilbert RD et al. Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. Pediatric Nephrology (Berlin, Germany). 2013 28(11):2217-20. (PMID: 23624871)
  8. Ong AC and Harris PC. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney International. 2005 Apr 67(4):1234-47. (PMID: 15780076)
  9. Hateboer N et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet (London, England). 1999 Jan 09 353(9147):103-7. (PMID: 10023895)
  10. Rossetti S et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology 2007 18(7):2143-60. (PMID: 17582161)
  11. Audrézet MP et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Human Mutation. 2012 Aug 33(8):1239-50. (PMID: 22508176)
  12. Schouten et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Research. 2002 Jun 15 30(12):e57.12060695 (PMID: 12060695)