Disorders

CACNA1S-Related Malignant Hyperthermia Susceptibility

Gene	Locus	Protein
CACNA1S	1q32	Voltage-dependent L-type calcium channel subunit alpha-1S

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France	• Mutation scanning of the entire coding region • Targeted mutation analysis • Linkage analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of select exons
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel
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
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• 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.