Disorders


 

Optic Atrophy Type 1


Synonym(s): Kjer Type Optic Atrophy

 

GeneReviewOMIM

GeneLocusProtein
OPA13q28-q29Dynamin-like 120 kDa protein

Laboratory Test Method Prenatal Carrier *
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia• Targeted mutation analysis
  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Ghent University Hospital, DNA Laboratory - Ghent, Belgium  
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark• Targeted mutation analysis
  
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands  
Medical Neurogenetics - Atlanta, GA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Netherlands Institute for Neuroscience, Molecular Ophthalmogenetics Laboratory - Amsterdam, Netherlands  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar  
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany  
Transgenomic - New Haven, CT, USA  
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, 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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