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GTR Home > Tests > KidneySeq Version 5 - 330 Genes

Overview

Test order codeHelp: KidneySeq

Test name

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KidneySeq Version 5 - 330 Genes (KidneySeq)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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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 of the University of Iowa Hospitals and Clinics may order the test by mailing the completed requisition form and sample to the address listed on the requisition.
Order URL Help: https://medicine.uiowa.edu/humangenetics/kidneyseq

Specimen source

Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Armstrong ME, Thomas CP. Diagnosis of monogenic chronic kidney diseases. Curr Opin Nephrol Hypertens. 2019;28(2):183-194. doi:10.1097/MNH.0000000000000486
  • Mansilla MA, Sompallae RR, Nishimura CJ, et al. Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases [published online ahead of print, 2019 Nov 18]. Nephrol Dial Transplant. 2019;gfz173. doi:10.1093/ndt/gfz173

Clinical validity

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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 (22 positive results) 7. Interfering substances: No interfering substances were determined which necessitated alternate processes or changes to the IIHG CDD standard operating procedures. 8. Reportable range: Reads providing 99.0% coverage at 30x; approximately 5M reads per sample to meet that requirement. 9. Reference intervals: variants are considered within the context of Human Genome Reference sequence hg19, GRCh37.

Citations

Not provided

Testing strategy

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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. 000 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 of the University of Iowa Hospitals and Clinics may order the test by mailing the completed requisition form and sample to the address listed on the requisition.

Test services

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  • Custom Sequence Analysis
  • Data Storage and Backup
  • Result interpretation

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.