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Diagnosis of hyperthermia (Panel)

  • Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie
  • Service de biochimie, biologie moléculaire et toxicologie environnementale
  • CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
  • Boulevard de la Chantourne
  • 38043 GRENOBLE CEDEX 9
  • FRANCE
  • Director of laboratory : Dr Julien FAURE
  • More information
  • Phone : 33 (0)4 76 76 55 73
  • Additional Phone : -
  • Fax : 33 (0)4 76 76 56 64
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Risk assessment

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (6)
Congenital multicore myopathy with external ophthalmoplegia
Exercise-induced malignant hyperthermia
King-Denborough syndrome
Malignant hyperthermia of anesthesia
Moderate multiminicore disease with hand involvement
Native American myopathy
List of genes tested (including panels) (4)
CACNA1S
LPIN1
RYR1
STAC3
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.