Disorders


 

TREX1-Related Aicardi-Goutieres Syndrome


 

OMIM

GeneLocusProtein
TREX13p21.31Three prime repair exonuclease 1

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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
 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
Secugen SL - Madrid, Spain• Sequence analysis of the entire coding region
 
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain• 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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