GTR Home > Tests > Mucin-1 Kidney Disease allele testing

Overview

Test name

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Mucin-1 Kidney Disease allele testing (MKD)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic

Condition

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Click Indication tab for more information.

How to order

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Not provided

Specimen source

Isolated DNA

Methodology

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Molecular Genetics
TTargeted variant analysis
MALDI-TOF mass spectrometry

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. - PubMed ID: 24509297

Clinical validity

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PPV = 100%, NPV = 100%

Citations
  • Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. - PubMed ID: 27157321

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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