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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessParalyse, hypokaliämische, periodische

Summary

Short information

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

ID
HS1001
Number of genes
1 Accredited laboratory test
Examined sequence length
5,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CACNA1S5622AD

Informations about the disease

Clinical Comment

Episodes of muscle paralysis from a few to 24-48 hours; associated with a fall in blood potassium levels

 

Synonyms
  • Allelic: Malignant hyperthermia susceptibility 5 (CACNA1S)
  • Allelic: Thyrotoxic periodic paralysis, susceptibility to, 1 (CACNA1S)
  • Hypokalemic periodic paralysis, type 1 (CACNA1S)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code
G72.3

Bioinformatics and clinical interpretation

No text defined