Disorders

CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids

Synonym(s): Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids, Leukoencephalopathy with Neuroaxonal Spheroids, Neuroaxonal Leukodystrophy

GeneReview OMIM

Gene	Locus	Protein
CSF1R	5q32	Macrophage colony-stimulating factor 1 receptor

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Praxis fuer Humangenetik Wien - Vienna, Austria

^* 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.