Disorders

Charcot-Marie-Tooth Neuropathy Type 4D

Synonym(s): CMT 4D, CMT4D

Gene	Locus	Protein
NDRG1	8q24

Laboratory	Test Method	Prenatal	Carrier *
2nd School of Medicine Charles University - Department of Child Neurology, DNA Laboratory - Praha 5, Czech Republic	• Sequence analysis of select exons
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands	• Sequence analysis of select exons
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Targeted mutation analysis
InVitae Corporation - San Francisco, CA, USA
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis

^* 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.