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ErkrankungDeoxyguanosin-Kinase-Defizienz, mtDNA-Depletions-Syndrom beim Erwachsenen; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Deoxyguanosin-Kinase-Defizienz, mtDNA-Depletions-Syndrom des Erwachsenen, mit zusammen genommen 21 Leitlinien-kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
DP9251
Anzahl Gene
14 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,0 kb (Core-/Basis-Gene)
- (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AGK1269AR
DGUOK834AR
FBXL41866AR
MGME11035AR
MPV17531AR
OPA12883AD und/oder AR und/oder Mult
POLG3720AD und/oder AR
RRM2B1272AD und/oder AR
SLC25A4897AD und/oder AR
SUCLA21392AR
SUCLG11041AR
TK2705AR
TWNK2055AD und/oder AR
TYMP1449AR

Infos zur Erkrankung

Synonyme
  • Alias: DGUOK Deficiency
  • Alias: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
  • Alias: Deoxyguanosine Kinase Deficiency
  • Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Behr syndrome (OPA1)
  • Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
  • Hereditary motor and sensory neuropathy VIA (MFN2)
  • Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
  • Mitochondrial DNA depletion syndrome 11 (MGME1)
  • Mitochondrial DNA depletion syndrome 12A [cardiomyopathic type] (SLC25A4)
  • Mitochondrial DNA depletion syndrome 12B [cardiomyopathic type] (SLC25A4)
  • Mitochondrial DNA depletion syndrome 13 [encephalomyopathic type] (FBXL4)
  • Mitochondrial DNA depletion syndrome 14 [encephalocardiomyopathic type] (OPA1)
  • Mitochondrial DNA depletion syndrome 15 [hepatocerebral type] (TFAM)
  • Mitochondrial DNA depletion syndrome 2 [myopathic type] (TK2)
  • Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
  • Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
  • Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
  • Mitochondrial DNA depletion syndrome 5 [encephalomyopathy +/- methylmalonic aciduria] (SUCLA2)
  • Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
  • Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
  • Mitochondrial DNA depletion syndrome 8A [encephalomyopathic type with renal tubulopathy] (RRM2B)
  • Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
  • Mitochondrial DNA depletion syndrome 9 [encephalomyopathic type + methylmalonic aciduria] (SUCLG1)
  • Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Optic atrophy 12 (AFG3L2)
  • Optic atrophy 5 (DNM1L)
  • Optic atrophy plus syndrome (OPA1)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 2 (RNASEH1)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 3 (TK2)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Seckel syndrome 8 (DNA2)
  • Sengers syndrome (AGK)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paraplegia 7, AR (SPG7)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • mtDNA depletion syndrome (AGK) Optic atrophy 1 (OPA1)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder Mult
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G71.3

Bioinformatik und klinische Interpretation

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