IllnessParalysis, hypocaliaemic periodic; differential diagnosis
Summary
Short information
A differential diagnostic panel containing 2 guideline-curated genes and altogether 5 curated genes for the comprehensive analysis of the genetic forms of hypocalaemic periodic Paralysis
ID
HP1001
Number of genes
4
Accredited laboratory test
Examined sequence length
12,5 kb (Core-/Core-canditate-Genes)
15,5 kb (Extended panel: incl. additional genes)
15,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Informations about the disease
Clinical Comment
Synonyms
- Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
- Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
- Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
- Allelic: Migraine, familial basilar (ATP1A2)
- Allelic: Migraine, familial hemiplegic, 2 (ATP1A2)
- Allelic: Short QT syndrome 3 (KCNJ2)
- Andersen(-Tawil) syndrome (KCNJ2)
- Hypokalaemic periodic paralysis [panelapp] (ATP1A2)
- Hypokalemic periodic paralysis type 1 (CANA1S)
- Hypokalemic periodic paralysis, type 2 (SCN4A)
- Thyrotoxic periodic paralysis, susceptibility to, 2 (KCNJ18)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G72.3
Bioinformatics and clinical interpretation
No text defined