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ErkrankungAktionsmyoklonus-Nierenversagen-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Aktionsmyoklonus-Nierenversagen-Syndrom, mit zusammen genommen 33 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
AP9225
Anzahl Gene
29 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,5 kb (Core-/Basis-Gene)
54,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + X

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
SCARB21437AR
ACMSD1011Ass
CERS11064AR
CLN51077AR
CLN6936AR
CNTN23123AR
CSTB297AR
DNAJC5597AD
EPM2A996AR
GBA1611AD und/oder AR und/oder Sus
GOSR2639AR
INF23750AD
KCNC11758AD
KCTD7870AR
LMNB21863AD und/oder AR
NEU11248AR
NHLRC11188AR
PRDM82078AR
PRICKLE12496AR
PRICKLE22535AR
RAPGEF25220AD
SAMD12795AD und/oder AR
SEMA6B2701AD
SERPINI11233AD
SGCE1314AD
SLC7A6OS943AR
STARD71121AD
TNRC6A5995AD
YEATS24308AD

Infos zur Erkrankung

Synonyme
  • Alias: Myoclonus-nephropathy syndrome
  • Alias: Myoklonus-Nephropathie-Syndrom
  • Alias: Myoklonusepilepsie, progressive, Typ 4
  • Alias: Progressive myoclonic epilepsy type 4
  • Alias: Progressive myoclonus epilepsy type 4
  • Allelic: Aphasia, primary progressive (GRN)
  • Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
  • Allelic: Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • Allelic: Gaucher disease, perinatal lethal (GBA)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
  • Allelic: Microcephaly 27, primary, AD (LMNB2)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset (CLN6)
  • Charcot-Marie-Tooth disease, dominant intermediate E (INF2)
  • Dentatorubral-pallidoluysian atrophy (ATN1)
  • Dystonia-11, myoclonic (SGCE)
  • Encephalopathy, familial, with neuroserpin inclusion bodies (SERPINI1)
  • Epilepsy, familial adult myoclonic 1 (SAMD12)
  • Epilepsy, familial adult myoclonic 2 (STARD7)
  • Epilepsy, familial adult myoclonic 4 (YEATS2)
  • Epilepsy, familial adult myoclonic 5 (CNTN2)
  • Epilepsy, familial adult myoclonic 6 /TVRC6A)
  • Epilepsy, familial adult myoclonic 7 (RAPGEF2)
  • Epilepsy, progressive myoclonic 10 (PRDM8)
  • Epilepsy, progressive myoclonic 11 (SEMA6B)
  • Epilepsy, progressive myoclonic 12 (SLC7A6OS)
  • Epilepsy, progressive myoclonic 1A [Unverricht + Lundborg] (CSTB)
  • Epilepsy, progressive myoclonic 1B (PRICKLE1)
  • Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
  • Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
  • Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
  • Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
  • Epilepsy, progressive myoclonic 5 (PRICKLE2)
  • Epilepsy, progressive myoclonic 6 (GOSR2)
  • Epilepsy, progressive myoclonic 7 (KCNC1)
  • Epilepsy, progressive myoclonic 8 (CERS1)
  • Epilepsy, progressive myoclonic 9 (LMNB2)
  • Gaucher disease, type I, II, III, IIIC (GBA)
  • Glomerulosclerosis, focal segmental, 5 (INF2)
  • Sialidosis, types I + II (NEU1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Sus
  • AR
  • Ass
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G25.3

Bioinformatik und klinische Interpretation

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