©istock.com/Andrea Obzerova
Unsere KompetenzInterdisziplinäre Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patientinnen und Patienten.

Klinische FragestellungNeuropathie, hereditäre motorische, Kinder/Jugendliche; Differentialdiagnose

Auftragsschein Klin. Fragestellung

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre motorische, Kinder/Jugendliche mit 24 Leitlinien-kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
NP6698
Anzahl Gene
1 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,0 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

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
AARS12927NM_001605.3AD

Infos zur Erkrankung

Synonyme
  • Alias: Distal hereditary motor neuropathy, DHMN
  • Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
  • Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCNT1)
  • Allelic: Deafness, AD 4A (MYH14)
  • Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
  • Allelic: Perry syndrome [parkinsonism, depression, respiratory hypoventilation] (DCNT1)
  • Allelic: Spastic paraplegia 31, AD (REEP1)
  • Allelic: Usher syndrome type 3B (HARS1)
  • Charcot-Marie-Tooth disease, RI C (PLEKHG5)
  • Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
  • Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
  • Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
  • Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
  • Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
  • Charcot-Marie-Tooth disease, type 2D (GARS1)
  • Developmental + epileptic encephalopathy 29 (AARS1)
  • Hereditary motor and sensory neuropathy, type IIc (TRPV4)
  • Neuromyotonia + axonal neuropathy, AR (HINT1)
  • Neuronopathy, distal hereditary motor, type IIA (HSPB8)
  • Neuronopathy, distal hereditary motor, type IIB (HSPB1)
  • Neuronopathy, distal hereditary motor, type IIC (HSPB3)
  • Neuronopathy, distal hereditary motor, type IID (FBXO38)
  • Neuronopathy, distal hereditary motor, type IX (WARS1)
  • Neuronopathy, distal hereditary motor, type VA (GARS1)
  • Neuronopathy, distal hereditary motor, type VB (REEP1)
  • Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
  • Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
  • Neuronopathy, distal hereditary motor, type VIIB (DCNT1)
  • Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Neuropathy, distal hereditary motor, type VA (BSCL2)
  • Peripheral neuropathy, myopathy, hoarseness, hearing loss (MYH14)
  • Spinal muscular atrophy, Jokela type (CHCHD10)
  • Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
  • Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
  • Spinal muscular atrophy, distal, XL 3 (ATP7A)
  • Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
Erbgänge, Vererbungsmuster etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G60.-

Bioinformatik und klinische Interpretation

Kein Text hinterlegt