Disorders

GDAP1-Related Intermediate Charcot-Marie-Tooth Neuropathy

Synonym(s): Charcot-Marie-Tooth Disease, Recessive Intermediate A, Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A, CMTRIA

OMIM

Gene	Locus	Protein
GDAP1	8q13.3	Ganglioside-induced differentiation-associated protein 1

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands	• Sequence analysis of the entire coding region
CGC Genetics - Porto, Portugal	• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• 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

^* 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.