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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessKleine-Levin syndrome, differential diagnosis

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Summary

Short information

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

ID
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
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CSNK1D1248NM_001893.6AD
DNMT14899NM_001130823.3AD
MOG744NM_206809.4AD
PER23768NM_022817.3AD
PER33606NM_016831.4AD

Informations about the disease

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.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined