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GTR Home > Tests > Cystic Kidney Disease Gene Panel

Overview

Test order codeHelp: CKDGP

Test name

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Cystic Kidney Disease Gene Panel (CKDGP)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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https://www.mayocliniclabs.com/test-catalog/overview/618072#Specimen
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Amniotic fluid
Cell culture
Chorionic villi
Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NovaSeq 6000
  • Other
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NovaSeq 6000
  • Other

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Mutations in GANAB, Encoding the Glucosidase II╬▒ Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. - PubMed ID: 27259053
  • Hereditary Renal Cystic Disorders: Imaging of the Kidneys and Beyond. - PubMed ID: 28493804
  • Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. - PubMed ID: 28530676
  • Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. - PubMed ID: 29706351

Clinical validity

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Not provided

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.