Disorders


 

Huntington Disease-Like 2


Synonym(s): HDL2

 

GeneReviewOMIM

GeneLocusProtein
JPH316q24.3Junctophilin-3

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Targeted mutation analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany• Targeted mutation analysis
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Targeted mutation analysis
  
Istituto di Farmacologia Traslazionale - CNR, Laboratorio di Neurogenetica - Roma, Italy• Targeted mutation analysis
  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Targeted mutation analysis
  
Medgene, MedGene - Bratislava, Slovakia• Targeted mutation analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Targeted mutation analysis
 
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• Targeted mutation analysis
 
University of Tennessee Medical Center, Molecular Diagnostics Laboratory - Knoxville, TN, USA• Targeted mutation analysis
 
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Targeted mutation analysis
 

* 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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