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Diagnosis of periodic paralysis - FILNEMUS Exhaustive list of genes (Panel)

  • UF de cardiogénétique et myogénétique moléculaire et cellulaire
  • Centre de génétique moléculaire et chromosomique
  • AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
  • 47-83 boulevard de l'Hôpital
  • 75013 PARIS
  • FRANCE
  • Director of laboratory : Dr Pascale A RICHARD
  • More information
  • Phone : 33 (0)1 42 17 76 64
  • Additional Phone : -
  • Fax : 33 (0)1 42 17 76 18
  • Website
  • Contact
Last update: June 2022

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (5)
Andersen-Tawil syndrome
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
Periodic paralysis with transient compartment-like syndrome
Thyrotoxic periodic paralysis
List of genes tested (including panels) (6)
ATP1A2
ATP1A3
CACNA1S
KCNJ2
RYR1
SCN4A
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.