GTR Home > Tests > Charcot-Marie-Tooth Neuropathy Type 2A2 (MFN2)

Overview

Test order codeHelp: MFN2 CMT2A2

Test name

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Charcot-Marie-Tooth Neuropathy Type 2A2 (MFN2) (CMT2A2 MFN2)

Purpose of the test

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

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3730 capillary sequencing instrument
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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EDTA-blood, DNA, other peripheral whole blood samples (not frozen). Other specimen after consultation.
Order URL Help: http://www.labmed.de/en/requirements-1626.html

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Result interpretation
  • Custom mutation-specific/Carrier testing

Clinical resources

Practice guidelines

  • EuroGenetest, 2010
    Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

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