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ErkrankungMDS - mtDNA-Depletionssyndrome, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für MDS - Mitochondriale DNA-Depletionssyndrome mit 23 Leitlinien-kuratierten bzw. insgesamt 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP9873
Anzahl Gene
23 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,6 kb (Core-/Basis-Gene)
- (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
  • Gewebeprobe
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABAT1503AR
AFG3L22394AD und/oder AR
AGK1269AR
DGUOK834AR
DNA23183AD und/oder AR
DNM1L2211AD und/oder AR
FBXL41866AR
GFER618AR
MFN22274AD und/oder AR und/oder Dig und/oder Sus
MGME11035AR
MPV17531AR
OPA12883AD und/oder AR und/oder Mult
POLG3720AD und/oder AR
RNASEH1869AR
RRM2B1272AD und/oder AR
SLC25A21897AR
SLC25A4897AD und/oder AR
SUCLA21392AR
SUCLG11041AR
TFAM645AR
TK2705AR
TWNK2055AD und/oder AR
TYMP1449AR

Infos zur Erkrankung

Synonyme
  • Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
  • Allelic: Optic atrophy 5 (DNM1L)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Seckel syndrome 8 (DNA2)
  • Behr syndrome (OPA1)
  • Charcot-Marie-Tooth disease, axonal, type 2A2B + 2A2A (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
  • GABA-transaminase deficiency (ABAT)
  • Hereditary motor + 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 16, hepatic type (POLG2)
  • Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (POLG2)
  • Mitochondrial DNA depletion syndrome 18 (SLC25A21)
  • 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)
  • Myopathy, mitochondrial progressive, with congenital cataract + developmental delay (GFER)
  • Optic atrophy 1 (OPA1)
  • 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 4 (POLG2)
  • 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)
  • Sengers syndrome (AGK)
  • Spastic ataxia 5, AR (AFG3L2)
  • mtDNA depletion [panelapp amber] (LIG3)
  • mtDNA depletion syndrome 10 [panelapp red] (AGK)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder Mult
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G31.81

Bioinformatik und klinische Interpretation

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