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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessParalysis, hypercaliaemic periodic

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion hyperkaliemic periodic paralysis

ID
PS0270
Number of genes
1 Accredited laboratory test
Examined sequence length
5,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SCN4A5511NM_000334.4AD

Informations about the disease

Clinical Comment

Episodic attacks of muscle weakness associated with an increase in serum potassium concentration

 

Synonyms
  • Alias: Adynamia episodica hereditaria with/-out myotonia
  • Alias: Familial hyperkalemic periodic paralysis
  • Alias: Gamstorp disease (SCN4A)
  • Allelic: Myasthenic syndrome, congenital, 16 (SCN4A)
  • Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
  • Allelic: Paramyotonia congenita (SCN4A)
  • Hyperkalemic periodic paralysis, type 2 (SCN4A)
  • Hypokalemic periodic paralysis, type 2 (SCN4A)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code
G72.3

Bioinformatics and clinical interpretation

No text defined