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ErkrankungParoxysmale ZNS-Erkrankungen [prädominant Dyskinesie, prädominant episodische Ataxie]; DD

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 8 bzw. insgesamt 27 Genen zur umfassenden Untersuchung der Verdachtsdiagnose Paroxysmale ZNS-Erkrankungen [prädominant Dyskinesie, prädominant episodische Ataxie]

ID
PP2299
Anzahl Gene
21 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,5 kb (Core-/Basis-Gene)
56,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ADCY53786AD und/oder AR
CACNA1A6786AD und/oder Ass
KCNA11488AD
KCNMA13537AD und/oder AR
PNKD429AD
PRRT21023AD
SCN8A5943AD
SLC2A11479AD und/oder AR
ATP1A23063AD
ATP1A33042AD
CACNB41563AD
CSNK1D1248AD
DNMT14899AD und/oder Impr
GLRA11350AD und/oder AR
KCNK181155AD
KCNQ22619AD
MOG744AD und/oder Ass
PDE10A2370AD und/oder AR
SCN1A6030AD und/oder Dig
SLC1A31629AD
SLC6A52394AD und/oder AR

Infos zur Erkrankung

Klinischer Kommentar

Sehr heterogene Gruppe von Erkrankungen

 

Synonyme
  • Allelic: Cognitive impairment with or without cerebellar ataxia (SCN8A)
  • Allelic: Liang-Wang syndrome (KCNMA1)
  • Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
  • Allelic: Spinocerebellar ataxia 6 (CACNA1A)
  • Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Allelic: Striatal degeneration, AD (PDE10A)
  • Advanced sleep-phase syndrome, familial, 2 (CSNK1D)
  • Allelic: Deafness, AD 65 (TBC1D24)
  • Allelic: Deafness, AR 86 (TBC1D24)
  • Alternating hemiplegia of childhood 1 (ATP1A2)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • CAPOS [Cereb. ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorin. hearing loss ] synd. (ATP1A3)
  • Cerebellar ataxia, deafness, and narcolepsy, AD (DNMT1)
  • Cerebellar atrophy, developmental delay, seizures (KCNMA1)
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • DOORS syndrome (TBC1D24)
  • Developmental + epileptic encephalopathy 16 (TBC1D24)
  • Developmental + epileptic encephalopathy 64 (RHOBTB2)
  • Dyskinesia, familial, with facial myokymia (ADCY5)
  • Dyskinesia, limb and orofacial, infantile-onset (PDE10A)
  • Dystonia 9 (SLC2A1)
  • Dystonia-12 (ATP1A3)
  • Epilepsy, generalized, with febrile seizures plus, type2 (SCN1A)
  • Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
  • Epilepsy, idiopathic generalized, susceptibility to, 9 (CACNB4)
  • Epilepsy, juvenile myoclonic, susceptibility to, 6 (CACNB4)
  • Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
  • Epileptic encephalopathy, early infantile, 13 (SCN8A)
  • Epileptic encephalopathy, early infantile, 42 (CACNA1A)
  • Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
  • Epileptic encephalopathy, early infantile, 7 (KCNQ2)
  • Episodic ataxia, type 2 (CACNA1A)
  • Episodic ataxia, type 5 (CACNB4)
  • Episodic ataxia, type 6 (SLC1A3)
  • Episodic ataxia/myokymia syndrome (KCNA1)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Febrile seizures, familial, 3A (SCN1A)
  • GLUT1 deficiency syndrome 1, infantile onset (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Hyperekplexia 1 (GLRA1)
  • Hyperekplexia 2 (GLRB)
  • Hyperekplexia 3 (SLC6A5)
  • Hyperekplexia 4 (ATAD1)
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures (PDE2A)
  • Migraine, familial basilar (ATP1A2)
  • Migraine, familial hemiplegic, 1 (CACNA1A)
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Migraine, familial hemiplegic, 2 (ATP1A2)
  • Migraine, familial hemiplegic, 3 (SCN1A)
  • Migraine, with/-out aura, susceptibility to, 13 (KCNK18)
  • Myoclonic epilepsy, infantile, familial (TBC1D24)
  • Myoclonus, familial, 2 (SCN8A)
  • Myokymia (KCNQ2)
  • Myokymia with periodic ataxia (KCNA1)
  • Narcolepsy 7 (MOG)
  • Paroxysmal exertion-induced dyskinesia with/without epilepsy and/or hemolytic anemia (SLC2A1)
  • Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
  • Paroxysmal nonkinesigenic dyskinesia, with/-out generalized epilepsy (KCNMA18)
  • Seizures, benign familial infantile, 2 (PRRT2)
  • Seizures, benign familial infantile, 5 (SCN8A)
  • Seizures, benign neonatal, 1 (KCNQ2)
  • Spinocerebellar ataxia 27 (FGF14)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Ass
  • AD und/oder Dig
  • AD und/oder Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H81.1

Bioinformatik und klinische Interpretation

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