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Test Code 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

Method Name

Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS)

Reporting Name

Focused ADPKD Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

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 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test 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