Disorders


 

Cerebrotendinous Xanthomatosis


Synonym(s): Cerebral Cholesterinosis, CTX

 

GeneReviewOMIM

GeneLocusProtein
CYP27A12q33-qterSterol 26-hydroxylase

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Kennedy Krieger Institute, Biochemical Genetics Laboratory - Baltimore, MD, USA• Analyte
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA  
Oregon Health and Science University, Lipid-Atherosclerosis and Sterols Analysis Lab - Portland, OR, USA• Analyte
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Analyte
  
Università degli Studi di Siena, Laboratorio di Malattie Neurometaboliche, Neurogenetica e colture cellulari - Siena, Italy• Analyte
  

* 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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