Orphanet: Diagnostik des Charcot Marie Tooth Syndroms AARS, DNM2, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, HK1, HSPB1, HSPB8, INF2, KARS, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SURF1, TRPV4 und YARS Gen
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Diagnosis of Charcot-Marie-Tooth disease (AARS, DNM2, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, HK1, HSPB1, HSPB8, INF2, KARS, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SURF1, TRPV4, and YARS genes)

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Last update: January 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (51)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2018
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