IllnessParalysis, hypercaliaemic periodic
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
SCN4A | 5511 | NM_000334.4 | AD |
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