Disorders


 

Charcot-Marie-Tooth Neuropathy Type 2H/2K


Synonym(s): CMT 2K, CMT2H, CMT2K

 

OMIM

GeneLocusProtein
GDAP18q13.3Ganglioside-induced differentiation-associated protein 1

Laboratory Test Method Prenatal Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany• Sequence analysis of the entire coding region
  
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands• Sequence analysis of the entire coding region
  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
• Linkage analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
CGC Genetics - Porto, Portugal• Sequence analysis of the entire coding region
 
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia• Sequence analysis of the entire coding region
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication 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.

Loading...