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Klinische FragestellungApnoe, rekurrente episodische; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein umfassendes panel mit 20 kuratierten Genen gemäß des klinischen Verdachts auf Apnoe, rekurrente episodische; Differentialdiagnose

ID
AP8298
Anzahl Gene
0 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

Keine Gene verlinkt

Infos zur Erkrankung

Synonyme
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Neuroblastoma with Hirschsprung disease (PHOX2B)
  • Allelic: Neuroblastoma, susceptibility to, 2 (PHOX2B)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • CAPOS syndrome (ATP1A3)
  • Central hypoventilation syndrome, congenital, 1, +/- Hirschsprung disease (PHOX2B)
  • Cognitive impairment with or without cerebellar ataxia (SCN8A)
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • Developmental and epileptic encephalopathy 11 (SCN2A)
  • Developmental and epileptic encephalopathy 13 (SCN8A)
  • Developmental and epileptic encephalopathy 14 (KCNT1)
  • Developmental and epileptic encephalopathy 6B, non-Dravet (SCN1A)
  • Developmental and epileptic encephalopathy 7 (KCNQ2)
  • Developmental and epileptic encephalopathy 8 (ARHGEF9)
  • Developmental and epileptic encephalopathy 99 (ATP1A3)
  • Dravet syndrome (SCN1A)
  • Dystonia 12 (ATP1A3)
  • Dystonia 9 (SLC2A1)
  • Epilepsy nocturnal frontal lobe, 5 (KCNT1)
  • Episodic ataxia, type 9 (SCN2A)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Erythermalgia, primary (SCN9A)
  • Febrile seizures, familial, 3A (SCN1A)
  • Fetal akinesia deformation sequence 2 (RAPSN)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
  • Hyperekplexia 1 (GLRA1)
  • Hyperekplexia 2 (GLRB)
  • Hyperekplexia 3 (SLC6A5)
  • Hyperkalemic periodic paralysis, type 2 (SCN4A)
  • Insensitivity to pain, congenital (SCN9A)
  • Migraine, familial hemiplegic, 3 (SCN1A)
  • Molybdenum cofactor deficiency C (GPHN)
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSN)
  • Myasthenic syndrome, congenital, 16 (SCN4A)
  • Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
  • Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CHRNE)
  • Myasthenic syndrome, congenital, 6, presynaptic (CHAT)
  • Myoclonus, familial, 2 (SCN8A)
  • Myokymia (KCNQ2)
  • Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
  • Neuropathy, hereditary sensory and autonomic, type IID (SCN9A)
  • Paramyotonia congenita (SCN4A)
  • Paroxysmal extreme pain disorder (SCN9A)
  • Seizures, benign familial infantile, 2 (PRRT2)
  • Seizures, benign familial infantile, 3 (SCN2A)
  • Seizures, benign familial infantile, 5 (SCN8A)
  • Seizures, benign neonatal, 1 (KCNQ2)
  • Seizures, benign neonatal, 2 (KCNQ3)
  • Small fiber neuropathy (SCN9A)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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