GTR Home > Tests > Dent Disease (Type 1, Type 2)

Overview

Test name

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Dent Disease (Type 1, Type 2)

Purpose of the test

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Contribute to generalizable knowledge

Condition

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3 conditions tested. Click Condition tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

2 genes and variants. Click Methodology tab for more information.

Genes

Description of study

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The purpose of this study is to screen patients with clinical suspicion of Dent Disease (elevated low molecular weight proteins with nephrocalcinosis, kidney stones or hypercalciuria), and in first and/or second degree relatives of probands with confirmed CLCN5 or ORCL1 variants when necessary for segregation analysis

Researchers

Person responsible for the studyHelpJohn C. Lieske, MD, Lab Director
Study contactHelpJohn C. Lieske, MD, Lab Director, lieske.john@mayo.edu
Co-investigatorHelpDawn Milliner, MD, Lab Director

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