Polycystic Kidney Disease (PKD) Genetic Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000571195.3
CAP
INHERITED DISEASEURINARY SYSTEM DISEASE
Last updated in GTR: 2023-06-29
Last annual review date for the lab: 2023-04-07 Past due LinkOut
At a Glance
Diagnosis
Polycystic kidney disease, adult type; Polycystic kidney disease 2
Genes (2): Help
PKD1 (16p13.3), PKD2 (4q22.1)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Clinical sensitivity: pathogenic variants were identified in all six positive …
Establish or confirm diagnosis; Reproductive decision-making
Ordering Information
Offered by: Help
Specimen Source: Help
CPT codes: Help
**AMA CPT codes notice
How to Order: Help
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
Clinical sensitivity: pathogenic variants were identified in all six positive samples sequenced, suggesting the clinical sensitivity is high. Clinical specificity: none of the 22 normal samples sequenced yielded positive reports.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Bergmann C. Recent advances in the molecular diagnosis of polycystic kidney disease. Expert Rev Mol Diagn. 2017;17(12):1037-1054. doi:10.1080/14737159.2017.1386099. Epub 2017 Nov 16. PMID: 28952822.

Reproductive decision-making
View citations (1)
  • Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 2009;76(2):149-68. doi:10.1038/ki.2009.128. Epub 2009 May 20. PMID: 19455193.

Recommended fields not provided:
Technical Information
Test Comments: Help
ADPKD is the most common inherited renal disease with a frequency of 1/500-1000, affecting about 12.5 million individuals worldwide. Defects in two major genes, PKD1 and PKD2, and rarely a third locus, GANAB, result in ADPKD. This disease is characterized by uncontrolled cyst growth in the kidneys and exhibits an … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytic specificity and sensitivity of the NGS panel are greater than 99%. 1 rare and 2 common variants in the genes tested were found in the sample NA12878 with zero false negatives and zero false positives.
Assay limitations: Help
This test covers 96.5% of the coding exons and flanking intronic regions of PKD1, and 95% of the coding exons and flanking intronic regions of PKD2. However, a mutation within the 4.25 % of the targeted DNA that the test misses would fail to be detected. A rare mutation that … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.