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ErkrankungMitochondriale Lebererkrankungen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Mitochondriale Lebererkrankungen mit 8 Leitlinien-kuratierten sowie insgesamt 13 kuratierten Genen

ID
MP3353
Anzahl Gene
13 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
11,6 kb (Core-/Basis-Gene)
18,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
  • Gewebeprobe
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
DGUOK834AR
MGME11035AR
MPV17531AR
POLG3720AD und/oder AR
RRM2B1272AD und/oder AR
TFAM645AR
TWNK2055AD und/oder AR
TYMP1449AR
ACAD91866AR
BCS1L1260AR
POLG21458AD und/oder AR
SCO1906AR und/oder Mi
TRMU1266AR

Infos zur Erkrankung

Synonyme
  • Allelic: Bjornstad syndrome (BCS1L)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
  • Allelic: Deafness, mitochondrial, modifier of (TRMU)
  • Allelic: Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 4 (POLG2)
  • Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
  • Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
  • Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
  • Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
  • GRACILE syndrome (BCS1L)
  • Liver failure, transient infantile (TRMU)
  • Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
  • Mitochondrial DNA depletion syndrome 11 (MGME1)
  • Mitochondrial DNA depletion syndrome 15 [hepatocerebral type] (TFAM)
  • Mitochondrial DNA depletion syndrome 16 [hepatic type] (POLG2)
  • 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 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 complex I deficiency, nuclear type 20 (ACAD9)
  • Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
  • Mitochondrial complex IV deficiency, nuclear type 4 (SCO1)
  • Portal hypertension, noncirrhotic (DGUOK)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AR
  • AR und/oder Mi
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G31.81

Bioinformatik und klinische Interpretation

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