Disorders


 

Biotin-Responsive Basal Ganglia Disease


Synonym(s): Thiamine Metabolism Dysfunction Syndrome 2

 

OMIM

GeneLocusProtein
SLC19A32q37Thiamine transporter 2

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Sequence analysis of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region

* 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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