Disorders


 

Cerebrotendinous Xanthomatosis


Synonym(s): Cerebral Cholesterinosis, CTX

 

GeneReviewOMIM

GeneLocusProtein
CYP27A12q33-qterSterol 26-hydroxylase, mitochondrial

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
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Kennedy Krieger Institute, Biochemical Genetics Laboratory - Baltimore, MD, USA• Analyte
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
 
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Oregon Health and Science University, Lipid-Atherosclerosis and Sterols Analysis Lab - Portland, OR, USA• Analyte
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Analyte
 
Università degli Studi di Siena, Laboratorio di Malattie Neurometaboliche, Neurogenetica e colture cellulari - Siena, Italy• Sequence analysis of the entire coding region
• 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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