©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
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
KCNJ21284NM_000891.3AD
SCN4A5511NM_000334.4AD
ATP1A23063NM_000702.4AD

Informations about the disease

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