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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.

Secondary ID

618002

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

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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.

Method Description

Capture-based and amplicon-based next-generation sequencing (NGS) are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as select other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions-insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.

 

There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for Focused Autosomal Dominant Polycystic Kidney Disease Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)

 

Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

 

Genes analyzed: ALG8, ALG9, DNAJB11, GANAB, HNF1B, PKD1, PKD2, UMOD

Day(s) Performed

Varies

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