Disorders


 

Bruck Syndrome 2


 

OMIM

GeneLocusProtein
PLOD23q24Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
diagenos - Osnabrueck, Germany• Sequence analysis of select exons
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Sequence analysis of the entire coding region
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland• Sequence analysis of the entire coding region
 
University of Washington Medical Center, Collagen Diagnostic Laboratory - Seattle, WA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 

* 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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