IllnessKleine-Levin syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Kleine-Levin syndrome comprising altogether 6 curated genes according to the clinical signs

KP8273

Number of genes

5 Accredited laboratory test

Examined sequence length

0,0 kb (Core-/Core-canditate-Genes)
14,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CSNK1D	1248	600864	NM_001893.6	AD
DNMT1	4899	126375	NM_001130823.3	AD
MOG	744	159465	NM_206809.4	AD
PER2	3768	603426	NM_022817.3	AD
PER3	3606	603427	NM_016831.4	AD

Clinical Comment

Neurological disorder with relapsing-remitting episodes of hypersomnia associated with cognitive + behavioural disturbances

Synonyms

Alias: Familiäre Hypersomnie
Alias: Kleine-Levin hibernation syndrome
Advanced sleep phase syndrome, familial, 1 (PER2)
Advanced sleep phase syndrome, familial, 3 (PER3)
Advanced sleep-phase syndrome, familial, 2 (CSNK1D)
Cerebellar ataxia, deafness, narcolepsy, AD (DNMT1)
Kleine-Levin syndrome associated with birth difficulties (TRANK1 genetic variants)
Narcolepsy 7 (MOG)
Neuropathy, hereditary sensory, type IE (DNMT1)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

F51.1

No text defined