Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Deletion/Duplication (INACTIVE as of 05/15/17: Refer to 2012250)
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test. 

Multiplex Ligation-dependent Probe Amplification
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background information for Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Deletion/Duplication
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is typically an adult onset, multisystem disorder. Renal findings include: bilateral renal cysts, renal insufficiency, renal pain, hypertension, dilated renal tubules, enlarged kidneys, and end stage renal disease (ESRD). Extra renal findings include cysts in other organs such as liver, pancreas, seminal vesicles, and arachnoid membrane. Connective tissue type findings include intracranial aneurysms, dolichoectasia, dilation of the aortic root, aortic dissections, mitral valve prolapse, and abdominal wall hernias. 50 percent of individuals with ADPKD will develop ESRD by age 60.
Prevalence: 1:500-1:1,000 in the U.S.
Inheritance: Autosomal dominant; 5-10 percent of cases are de novo.
Penetrance: Age-dependent; nearly all older adults develop multiple renal cysts. Average age of ESRD for Individuals with PKD1 and PKD2 mutations is 54 and 74 years, respectively.
Cause: Pathogenic PKD1 or PKD2 gene mutations. Of cases with an identifiable molecular cause, 85 percent attributed to PKD1 and 15 percent attributed to PKD2.
Clinical Sensitivity: Up to 3 percent for ADPKD.
Methodology: Multiplex ligation-dependent probe amplification (MLPA) to detect large exonic deletions/duplications of PKD1 or PKD2.
Analytical Sensitivity and Specificity: 99 percent.
Diagnostic errors can occur due to rare sequence variations. Base pair substitutions, small deletions/duplications, deep intronic mutations and regulatory region mutations will not be detected in either PKD1 or PKD2. Large deletions/duplications of PKD1 exons 1, 2, 4, 8, 17, 24, 28, 32, 34, and 45 will not be detected. Mosaic mutations in PKD1 or PKD2 may not be detected. Breakpoints for large deletions/duplications will not be determined. Mutations in genes other than PKD1 and PKD2 are not assessed by this assay.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
2012247ADPKD DelDup Specimen31208-2
2012248ADPKD DelDup Interp44421-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • Adult polycystic kidney disease (APKD)
  • Adult polycystic kidney disease 1
  • Adult polycystic kidney disease 2
  • Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease type 1
  • Polycystic Kidney Disease type 2