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.
- 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
Characteristics: 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.
Limitations: 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.
|Component Test Code*||Component Chart Name||LOINC|
|2012247||ADPKD DelDup Specimen||31208-2|
|2012248||ADPKD DelDup Interp||44421-6|
- 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