Disorders


 

Hypokalemic Periodic Paralysis Type 1


 

OMIM

GeneLocusProtein
CACNA1S1q32Voltage-dependent L-type calcium channel subunit alpha-1S

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Sequence analysis of select exons
• Targeted mutation analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany  
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France• Linkage analysis
  
CGC Genetics - Porto, Portugal• Targeted mutation analysis
  
diagenos - Osnabrueck, Germany• Sequence analysis of select exons
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
• Linkage analysis
  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands• Sequence analysis of select exons
  
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA• Sequence analysis of select exons
• Targeted mutation analysis
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Seoul Children's Hospital, Medical Genetics Laboratory - Seoul, South Korea• Targeted mutation analysis
  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of select exons
  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
  
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic• Targeted mutation analysis
  
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada• Sequence analysis of select exons
  
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Sequence analysis of select exons
  

* 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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