Disorders


 

Maple Syrup Urine Disease Type 1A


 

OMIM

GeneLocusProtein
BCKDHA19q13.1-q13.22-oxoisovalerate dehydrogenase subunit alpha

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany  
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France  
diagenos - Osnabrueck, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
Genetrack Biolabs Inc., Molecular Genetics Laboratory - Vancouver, Canada• Targeted mutation analysis
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland  
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA• Targeted mutation analysis
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
LabCorp, Molecular Biology - Research Triangle Park, NC, USA• Targeted mutation analysis
  
Medgene, MedGene - Bratislava, Slovakia  
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA• Targeted mutation analysis
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain  

* 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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