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

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

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CACNA1S	5622	114208	NM_000069.3	AD
KCNJ2	1284	600681	NM_000891.3	AD
SCN4A	5511	603967	NM_000334.4	AD
ATP1A2	3063	182340	NM_000702.4	AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_HP1001 https://www.dgn.org/images/red_leitlinien/LL_2012/pdf/ll_66_2012_myotone_dystrophien_nicht_dystrophe_myotonien_und_periodische_paralysen_archiv.pdf

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

G72.3

Bioinformatics and clinical interpretation

No text defined