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ErkrankungSchlafstörungen, primär; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Schlafstörungen, primär, mit 3 bzw. zusammen genommen 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP3443
Anzahl Gene
13 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
6,9 kb (Core-/Basis-Gene)
26,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CSNK1D1248AD
DNMT14899AD und/oder Impr
MOG744AD und/oder Ass
ADRB11434AD
ANK33006AR
BHLHE411449AD
CRY11761AD und/oder Sus
DEAF11698AD und/oder AR
HCRT396AD
PER23768AD
PER33606AD
PRNP762AD
SLC6A41893AD

Infos zur Erkrankung

Klinischer Kommentar

Besondere Schlafmuster ohne sonstige Syndrome [Differentialdiagnostik nur nach Rücksprache]

Group of disorders

Rare sleep disorder ORPHA:68354

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea ORPHA:420789

AD cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404

Familial advanced sleep-phase syndrome ORPHA:164736

Idiopathic hypersomnia ORPHA:33208

Kleine-Levin syndrome ORPHA:33543

Narcolepsy type 1 ORPHA:2073

Narcolepsy type 2 ORPHA:83465

Non-24-hour sleep-wake syndrome ORPHA:73267

 

Synonyme
  • Allelic: Brachyolmia type 3 (TRPV4)
  • Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Allelic: Creutzfeldt-Jakob disease (PRNP)
  • Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
  • Allelic: Gerstmann-Straussler disease (PRNP)
  • Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Allelic: Huntington disease-like 1 (PRNP)
  • Allelic: Kuru, susceptibility to (PRNP)
  • Allelic: Metatropic dysplasia (TRPV4)
  • Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
  • Allelic: Prion disease with protracted course (PRNP)
  • Allelic: Vulto-van Silfout-de Vries syndrome (DEAF1)
  • Advanced sleep phase syndrome, familial, 1 (PER2)
  • Advanced sleep phase syndrome, familial, 2 (CSNK1D)
  • Advanced sleep phase syndrome, familial, 3 (PER3)
  • Anxiety-related personality traits (SLC6A4)
  • Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
  • Delayed sleep phase syndrome, susceptibility to (CRY1)
  • Developmental + epileptic encephalopathy 58 (NTRK2)
  • Insomnia, fatal familial (PRNP)
  • Mental retardation, AR, 37 (ANK3)
  • Narcolepsy (EIF3G)
  • Narcolepsy 1 (HCRT2)
  • Narcolepsy 7 (MOG)
  • Neurodevelopmental disorder with hypotonia, impaired expressive language with/-out seizures (DEAF1)
  • Obesity, hyperphagia + developmental delay (AKR1C2, NTRK2)
  • Obsessive-compulsive disorder (SLC6A4)
  • Resting heart rate (ADRB1)
  • Short sleep, familial natural, 1 (BHLHE41)
  • Short sleep, familial natural, 2 (ADRB1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Ass
  • AD und/oder Impr
  • AD und/oder Sus
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G47.-

Bioinformatik und klinische Interpretation

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