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Klinische FragestellungGestörte mitochondriale DNA-Instandhaltung, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Gestörte mitochondriale DNA-Instandhaltung / mtDNA maintenance disorders mit 25 Leitlinien-kuratierten sowie insgesamt 27 kuratierten Genen

ID
MP3354
Anzahl Gene
26 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
37,2 kb (Core-/Core-canditate-Gene)
42,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

MP3354_DH

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ABAT1503NM_000663.5AR
AFG3L22394NM_006796.3AD, AR
AGK1269NM_018238.4AR
DGUOK834NM_080916.3AR
DNA23183NM_001080449.3AD
FBXL41866NM_012160.5AR
GFER618NM_005262.3AR
MFN22274NM_014874.4AD, AR
MGME11035NM_052865.4AR
MPV17531NM_002437.5AR
OPA12883NM_015560.3AD, AR
POLG3720NM_002693.3AR, AD
POLG21458NM_007215.4AD, AR
RNASEH1869NM_002936.6AR
RRM2B1272NM_015713.5AR
SLC25A21897NM_001171170.2AR
SLC25A4897NM_001151.4AD, AR
SPG72388NM_003119.4AR, AD
SUCLA21392NM_003850.3AR
SUCLG11041NM_003849.4AR
TFAM645NM_001270782.2AR
TK2705NM_001172643.1AR
TWNK2055NM_021830.5AD, AR
TYMP1449NM_001953.5AR
DNM22613NM_001005360.3AD
TOP3A3006NM_004618.5AR

Infos zur Erkrankung

Synonyme
  • Allelic: Optic atrophy 5 (DNM1L)
  • Behr syndrome (OPA1)
  • Cataract 38, AR (AGK)
  • Centronuclear myopathy 1 (DNM2)
  • Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
  • Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
  • GABA-transaminase deficiency (ABAT)
  • Glaucoma, normal tension, susceptibility to (OPA1)
  • Hereditary motor + sensory neuropathy VIA (MFN2)
  • Lethal congenital contracture syndrome 5 (DNM2)
  • Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
  • 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 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 [encephalomyopathic +/- methylmalonic aciduria] (SUCLA)
  • Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
  • Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
  • Mitochondrial DNA depletion syndrome 8A [encephalomyopathic 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, congenital cataract + developmental delay (GFER)
  • Optic atrophy 1 (OPA1)
  • Optic atrophy 12 (AFG3L2)
  • Optic atrophy plus syndrome (OPA1)
  • Perrault syndrome 5 (TWNK)
  • Portal hypertension, noncirrhotic (DGUOK)
  • 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 5 (RRM2B)
  • 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 with mitochondrial DNA deletions, AR 5 (TOP3A)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Progressive external ophthalmoplegia, AR 1 (POLG)
  • Seckel syndrome 8 (DNA2)
  • Sengers syndrome (AGK)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paraplegia 7, AR (SPG7)
  • Spinocerebellar ataxia 28 (AFG3L2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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