Disorders


 

Isolated Aniridia


 

OMIM

GeneLocusProtein
PAX611p13Paired box protein Pax-6

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-metaphase
  
bio.logis Center for Human Genetics - Frankfurt, Germany  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Cologne University, Institute of Human Genetics - Cologne, Germany  
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA  
diagenos - Osnabrueck, Germany  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Ghent University Hospital, DNA Laboratory - Ghent, Belgium  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• FISH-interphase
  
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA  
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
  
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Salisbury Healthcare NHS Trust, Wessex Regional Genetics Laboratory - Salisbury, Great Britain• Mutation scanning of the entire coding region
  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA  

* 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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