Disorders


 

CYP1B1-Related Primary Congenital Glaucoma


 

OMIM

GeneLocusProtein
CYP1B12p22.2 

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA  
Centogene AG, Rare Disease Company - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Flinders Medical Centre, Genetics and Molecular Pathology, SA Pathology - Adelaide, Australia  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
Genexpress Ltd, Molecular Genetics Laboratory - Bratislava, Slovakia• Targeted mutation analysis
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland  
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar  
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium  
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada  

* 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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