Orphanet: Molekulare Diagnostik des Charcot Marie Tooth Syndroms EGR2 , GDAP1 , GJB1 , HINT1 , HSPB1 , LMNA , MFN2 , MPZ , NEFL , PMP22 , PRPS1 , PRX , RAB7 und SH3TC2 Gen

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Molecular diagnosis of Charcot-Marie-Tooth disease (EGR2, GDAP1, GJB1, HINT1, HSPB1, LMNA, MFN2, MPZ, NEFL, PMP22, PRPS1, PRX, RAB7, and SH3TC2 genes)

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Last update: September 2017

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

Quality management


EQA scheme(s) organized by EMQN

CMT (Charcot-Marie-Tooth disease)
2017, 2019
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