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)
26,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CSNK1D | 1248 | AD | |
DNMT1 | 4899 | AD und/oder Impr | |
MOG | 744 | AD und/oder Ass | |
ADRB1 | 1434 | AD | |
ANK3 | 3006 | AR | |
BHLHE41 | 1449 | AD | |
CRY1 | 1761 | AD und/oder Sus | |
DEAF1 | 1698 | AD und/oder AR | |
HCRT | 396 | AD | |
PER2 | 3768 | AD | |
PER3 | 3606 | AD | |
PRNP | 762 | AD | |
SLC6A4 | 1893 | AD |
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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