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ErkrankungMyoklonus-Dystonie, Differentialdiagnose

Zusammenfassung

Kurzinformation

MP9112_KI

ID
MP9112
Anzahl Gene
17 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,0 kb (Core-/Basis-Gene)
45,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

MP9112_DH

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
KCTD171645AD
SGCE1314AD
ADCY53786AD und/oder AR
ATM9171AD und/oder AR und/oder SMu und/oder Sus
ATN13573AD
ATP7B4398AR
ATXN31086AD und/oder Ass
CSTB297AR
EPM2A996AR
GCH1753AD und/oder AR
NHLRC11188AR
NKX2-11206AD
PRKCG2094AD
RELN10383AD und/oder AR
TOR1A999AD
TTPA837AR
TUBB2B1338AD

Infos zur Erkrankung

Synonyme
  • Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
  • Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Ataxia with isolated vitamin E deficiency (TTPA)
  • Ataxia-telangiectasia (ATM)
  • Chorea, hereditary benign (NKX2-1)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Dentatorubral-pallidoluysian atrophy (ATN1)
  • Dyskinesia with orofacial involvement, AD (ADCY5)
  • Dyskinesia with orofacial involvement, AR (ADCY5)
  • Dystonia 26, myoclonic (KCTD17)
  • Dystonia, DOPA-responsive (GCH1)
  • Dystonia-1, modifier of (TOR1A)
  • Dystonia-1, torsion (TOR1A)
  • Dystonia-11, myoclonic (SGCE)
  • Epilepsy, familial temporal lobe, 7 (RELN)
  • Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB)
  • Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
  • Epilepsy, progressive myoclonic 2B, Lafora (NHLRC1)
  • Intellectual developmental disorder, AD 42 (GNB1)
  • Lissencephaly 2, Norman-Roberts type (RELN)
  • Machado-Joseph disease (ATXN3)
  • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (ADCY5)
  • Spinocerebellar ataxia 14 (PRKCG)
  • Wilson disease (ATP7B)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder Ass
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G25.-

Bioinformatik und klinische Interpretation

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