Disorders

Charcot-Marie-Tooth Neuropathy Type 4C

Synonym(s): Charcot-Marie-Tooth Disease Type 4C, CMT 4C, CMT4C

Gene	Locus	Protein
SH3TC2	5q32

Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany	• Sequence analysis of select exons
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GGA - Galil Genetic Analysis - Kazerin, Israel
InVitae Corporation - San Francisco, CA, USA
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.