KidneySeq Version 5 - 330 Genes
GTR Test Accession: Help GTR000528276.12
Last updated in GTR: 2022-03-30
Last annual review date for the lab: 2023-07-12 LinkOut
At a Glance
Comprehensive testing for inherited renal disease
Genes (1): Help
PKD1-AS1 (16p13.3)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Any individual with suspected hereditary renal disease
1. Accuracy: >99% for SNV 2. Precision/Reproducibility: 100% 3. Positive …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Iowa Institute of Human Genetics
View lab's website
View lab's test page
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Mycah Kimble, BA, Administrator
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
This test must be ordered by a health care provider. Please note patients are not permitted to order the test.
Complete the requisition form:

-UIHC health care providers should complete a requisition form and place a test order in Epic with test code: LAB8632

-Health care providers outside …
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Order URL
Test service: Help
Custom Sequence Analysis
Data Storage and Backup
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Tests are ordered on an index (i.e., proband) patient with hereditary renal disease. If a genetic cause of disease is identified, familial testing may be ordered for relatives of the index patient.
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
Clinical validity: Help
1. Accuracy: >99% for SNV 2. Precision/Reproducibility: 100% 3. Positive and negative control accuracy – 100% for positive; 99% for negative control variants 4. Analytical Sensitivity: 100% 5. Analytical Specificity: 99.99% 6. Clinical performance characteristics: the solved rate was determined to be 100% for the samples included in the validation … View more
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Diagnosis of monogenic chronic kidney diseases. Armstrong ME, et al. Curr Opin Nephrol Hypertens. 2019;28(2):183-194. doi:10.1097/MNH.0000000000000486. PMID: 30601180.
  • Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases. Mansilla MA, et al. Nephrol Dial Transplant. 2021;36(2):295-305. doi:10.1093/ndt/gfz173. PMID: 31738409.

Target population: Help
Any individual with suspected hereditary renal disease
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
VUS interpretation is done by reviewing literature, databases and predictive programs. Variants are classified as VUS according to ACMG criteria.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No. Healthcare providers may contact the IIHG via email, or phone, 319-335-3688, to inquire about segregation analysis at no charge.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. The laboratory will contact the ordering provider using the contact information provided on the test requisition.
Is research allowed on the sample after clinical testing is complete? Help
Research is not performed after clinical testing is complete.
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report
Technical Information
Test Procedure: Help
Agilent SureSelect Custom Capture
Test Confirmation: Help
Identification (sample integrity) is verified by using several genetic markers for race and ethnicity (sample integrity) or Sanger sequencing (variants with QD between 5 and 10)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Greater than 99%
Assay limitations: Help
KidneySeqTM is a targeted capture platform which does not capture the entire exome. Regions not captured by the panel will not be analyzed. Please note, it is important to understand the absence of a reportable variant in a given gene does not mean there are not pathogenic variants in that … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Software used to interpret novel variations Help
The laboratory director's software choice is done at his or her discretion as appropriate.
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.