KidneySeq Version 5 - 330 Genes - Clinical Genetic Test - GTR

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KidneySeq Version 5 - 330 Genes

Clinical Genetic Test

offered by

Iowa Institute of Human Genetics

View lab's test page

GTR Test Accession: GTR000528276.13

Last updated in GTR: 2025-07-18

View version history

GTR000528276.13, last updated: 2025-07-18

GTR000528276.12, last updated: 2022-03-30

GTR000528276.11, last updated: 2021-07-08

GTR000528276.10, last updated: 2020-09-02

GTR000528276.9, last updated: 2020-07-27

GTR000528276.8, last updated: 2019-07-26

GTR000528276.7, last updated: 2018-07-27

GTR000528276.6, last updated: 2017-11-03

GTR000528276.5, last updated: 2017-08-01

GTR000528276.4, last updated: 2016-11-22

GTR000528276.3, last updated: 2016-08-02

GTR000528276.2, last updated: 2015-10-07

GTR000528276.1, registered in GTR: 2015-09-14

Last annual review date for the lab: 2025-07-18

At a Glance

Test purpose:

Diagnosis

Conditions (1):

Comprehensive testing for inherited renal disease

Genes (1):

PKD1-AS1 (16p13.3)

Methods (1):

Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)

Target population:

Any individual with suspected hereditary renal disease

Clinical validity:

1. Accuracy: >99% for SNV 2. Precision/Reproducibility: 100% 3. Positive …

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

Iowa Institute of Human Genetics
View lab's website
View lab's test page

Test short name:

KidneySeq

Specimen Source:

Isolated DNA
Peripheral (whole) blood
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician
Nurse Practitioner
Physician Assistant

Test Order Code:

KidneySeq
View other test codes

CPT codes:

**AMA CPT codes notice

Lab contact:

Mycah Kimble, BA, Administrator
iihg@uiowa.edu
319-335-3688

Contact Policy:

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:

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 …

View more
Order URL

Test service:

Custom Sequence Analysis
Data Storage and Backup
Result interpretation

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Based on applicable state law

Test strategy:

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:

Post-test genetic counseling required:

Conditions

Total conditions: 1

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument

Sequence analysis of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)

Illumina MiSeq

Clinical Information

Test purpose:

Diagnosis

Clinical validity:

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:

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:

Any individual with suspected hereditary renal disease

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
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?
No. Healthcare providers may contact the IIHG via email, iihg-clinicaldivision@healthcare.uiowa.edu 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?
Yes. The laboratory will contact the ordering provider using the contact information provided on the test requisition.

Research:

Is research allowed on the sample after clinical testing is complete?
Research is not performed after clinical testing is complete.

Recommended fields not provided:

Sample negative report, Sample positive report

Technical Information

Test Procedure:

Agilent SureSelect Custom Capture

Test Confirmation:

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:

Tests performed
Entire test performed in-house

Analytical Validity:

Greater than 99%

Assay limitations:

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 … 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 gene. The variant causing the patient's symptoms may not be detected because: some types of variants are very difficult to identify; and it may not be included in the sequenced/studied region. Typically, single nucleotide variations (SNV), and small insertions or deletions (indels) can be detected. Examples of genomic variations that are not reliably detected include: Trinucleotide repeats Genomic rearrangements Large deletions, duplications, and insertions Regulatory variants Non-coding RNA Gain-of-splice site variants Multi-gene contributions Un-annotated or under-annotated genes Epigenetic/chromatin variations Mutations involved in tri-allelic inheritance Mitochondrial genome mutations Mutations in genes with pseudogenes The test cannot predict disease onset or severity. If a variant is identified, it may not be recognized as disease-causing because the understanding of the genome is not complete and it is not possible to predict with 100% accuracy the effect of all variants. Interpretation of results is based on the current understanding of the human genome and human health and disease. The test may detect variants of uncertain clinical significance. Efforts will be made to limit these types of results. The results may be unclear and testing of other family members may be necessary to interpret the patient's test results, however, this testing would require the patient's approval and the consent of their family members. The ability to identify the variant responsible for the condition is highly dependent on the clinical information provided to the laboratory by the ordering physician. View more

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Intra-Laboratory

VUS:

Software used to interpret novel variations
The laboratory director's software choice is done at his or her discretion as appropriate.

Recommended fields not provided:

Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Consumer resources:

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.