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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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

Bioinformatics and clinical interpretation

No text defined