IllnessSleep disorders, primary; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Sleep disorders, primary, comprising 3 and altogether 17 curated genes according to the clinical signs
ID
SP3443
Number of genes
13
Accredited laboratory test
Examined sequence length
6,9 kb (Core-/Core-canditate-Genes)
26,7 kb (Extended panel: incl. additional genes)
26,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Special sleep patterns without other syndromes [differential diagnostics exclusively upon special request]
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
Synonyms
- 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)
- Advance sleep phase syndrome, familial, 4 (TIMELESS)
- Advanced sleep phase [expert opinion] (PER2, PER3, CRY2, CSNK1D, TIMELESS)
- Advanced sleep phase syndrome, familial, 1 (PER2)
- Advanced sleep phase syndrome, familial, 2 (CSNK1D)
- Advanced sleep phase syndrome, familial, 3 (PER3)
- Allelic: Asthma, susceptibility to, 2 (NPSR1)
- Anxiety-related personality traits (SLC6A4)
- Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
- Delayed sleep phase [expert opinion] (CRY1)
- Delayed sleep phase syndrome, susceptibility to (CRY1)
- Developmental + epileptic encephalopathy 58 (NTRK2)
- Familial natural short sleep [expert opinion] (ADRB1, BHLHE41, GRM1, NPSR1)
- 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)
- Spinocerebellar ataxia 44 (GRM1)
- Spinocerebellar ataxia, AR 13 (GRM1)
Heredity, heredity patterns etc.
- AD
- AR
- Ass
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G47.-
Bioinformatics and clinical interpretation
No text defined