Deutsch
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Heredity |
|---|---|---|---|
| CACNA1S | 5622 | AD |
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