Orphanet: Molekulare Diagnostik der Charcot Marie Tooth Krankheit GDAP1, GJB1, HINT1, IGHMBP2, KIF1B, LITAF, LMNA, MFN2, MPZ, NEFL, PMP22, RAB7A und SBF2 Gen
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Molecular diagnosis of Charcot-Marie-Tooth disease (GDAP1, GJB1, HINT1, IGHMBP2, KIF1B, LITAF, LMNA, MFN2, MPZ, NEFL, PMP22, RAB7A, and SBF2 genes)

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Last update: December 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2015
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.