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HelpTest ID: ADPKP Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies
Ordering Guidance
Targeted testing for familial variants (also called site-specific or known mutation/variant testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information, see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Hereditary Renal Genetic Testing Patient Information (T918)
3. If not ordering electronically, complete, print, and send a Renal Diagnostics Test Request (T830) with the specimen.
Useful For
Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease
Establishing a diagnosis of autosomal dominant polycystic kidney disease
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide, small deletion-insertion, and copy number variants in 8 genes associated with autosomal dominant polycystic kidney disease (ADPKD): ALG8, ALG9, DNAJB11, GANAB, HNF1B, PKD1, PKD2, UMOD. See Targeted Genes and Methodology Details for Focused Autosomal Dominant Polycystic Kidney Disease Panel in Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for ADPKD.
Method Name
Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)
Reporting Name
Focused ADPKD Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Autosomal dominant polycystic kidney disease (ADPKD) typically manifests in adulthood and is primarily characterized by bilateral kidney cysts, liver cysts, and an increased risk for intracranial aneurysm.(1) Less commonly, symptoms of ADPKD can manifest in childhood or adolescence.(2) Two genes, PKD1 and PKD2, account for the majority of cases of ADPKD, with approximately 78% of cases being attributed to disease-causing variants in the PKD1 gene and approximately 15% of cases being attributed to disease-causing variants in the PKD2 gene.(1) Disease-causing variants in 2 other genes, DNAJB11 and GANAB, are estimated to account for less than 1% of ADPKD cases. The lifetime penetrance of bilateral cysts is close to 100% in individuals with ADPKD, but disease manifestation is typically age-dependent and gene-dependent.(3)
ADPKD can have significant clinical overlap with other autosomal dominant conditions in which bilateral kidney cysts are a common feature, including autosomal dominant tubulointerstitial kidney diseases due to disease-causing variants in the HNF1B or UMOD genes.(1)
Rarer causes of autosomal dominant conditions with overlapping ADPKD features are emerging. The ALG8 gene is most commonly associated with polycystic liver disease, however case reports have identified isolated, bilateral kidney cysts in a small number of individuals.(4) The ALG9 gene is primarily associated with autosomal recessive congenital disorder of glycosylation, type I, but recent studies have identified isolated, bilateral kidney cysts in heterozygous carriers.(5)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(6) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Harris PC, Torres VE: Polycystic kidney disease, autosomal dominant. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2002. Updated July 19, 2018. Accessed June 7, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1246/
2. Gimpel C, Bergmann C, Bockenhauer D, et al: International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol. 2019 Nov;15(11):713-726
3. Lanktree MB, Haghighi A, Guiard E, et al. Prevalence estimates of polycystic kidney and liver disease by population sequencing. J Am Soc Nephrol. 2018;29(10):2593-2600
4. Besse W, Dong K, Choi J, et al: Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Erratum in: J Clin Invest. 2017 Sep 1;127(9):3558
5. Besse W, Chang AR, Luo JZ, et al: ALG9 mutation carriers develop kidney and liver cysts. J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298
6. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
Day(s) Performed
Varies
Report Available
28 to 42 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81405
81406 x 2
81407
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| ADPKP | Focused ADPKD Gene Panel | 51966-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 618003 | Test Description | 62364-5 |
| 618004 | Specimen | 31208-2 |
| 618005 | Source | 31208-2 |
| 618006 | Result Summary | 50397-9 |
| 618007 | Result | 82939-0 |
| 618008 | Interpretation | 69047-9 |
| 618009 | Additional Results | 82939-0 |
| 618010 | Resources | 99622-3 |
| 618011 | Additional Information | 48767-8 |
| 618012 | Method | 85069-3 |
| 618013 | Genes Analyzed | 48018-6 |
| 618014 | Disclaimer | 62364-5 |
| 618015 | Released By | 18771-6 |
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