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

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-GReferenz-Seq.Heredity
CACNA1S5622NM_000069.3AD, AR

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
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined