Disorders


 

CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids


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

 

GeneReviewOMIM

GeneLocusProtein
CSF1R5q32Macrophage colony-stimulating factor 1 receptor

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

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