Disorders


 

BSCL2-Related Neurologic Disorders/Seipinopathy


 

GeneReviewOMIM

GeneLocusProtein
BSCL211q13Seipin

Laboratory Test Method Prenatal Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands• Sequence analysis of select exons
  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Linkage analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium• Sequence analysis of select exons
  
InVitae Corporation - San Francisco, CA, USA  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Sequence analysis of select exons
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of select exons
  
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain• Sequence analysis of select exons
  
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany  

* 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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