Disorders

Hyperkalemic Periodic Paralysis Type 1

Synonym(s): HyperPP Type 1

Gene	Locus	Protein
SCN4A	17q23.3	Sodium channel protein type 4 subunit alpha

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
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of select exons
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada	• Sequence analysis of select exons • Targeted mutation analysis
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA	• Sequence analysis of select exons • Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Seoul Children's Hospital, Medical Genetics Laboratory - Seoul, South Korea	• 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.