Disorders

Hypokalemic Periodic Paralysis Type 1

Gene	Locus	Protein
CACNA1S	1q32	Voltage-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.