GTR Home > Tests > Charcot-Marie-Tooth disease, autosomal dominant

Overview

Test name

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Charcot-Marie-Tooth disease, autosomal dominant

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Pre-symptomatic, Therapeutic management

Condition

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27 conditions tested. Click Indication tab for more information.

Methodology

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

Summary of what tested

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

Genes and variants

Clinical validity

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Not provided

Clinical utility

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Not provided

Testing strategy

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Full gene sequencing and deletion/duplication analysis of targeted genes

How to order

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Tests can be ordered online or by submitting a paper requisition form.
Order URL Help: https://www.invitae.com/ordering

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling

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