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Klinische FragestellungGM1-Gangliosidose Typ III, Differentialdiagnose

Auftragsschein Klin. Fragestellung
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Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für GM1-Gangliosidose Typ III mit 1 Leitlinien-kuratierten "core"-Gen, 5 in den Leitlinien auch erwähnten "core candidate"-Genen sowie insgesamt 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP0919
Anzahl Gene
26 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,3 kb (Core-/Core-canditate-Gene)
59,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
CLN6936NM_017882.3AR
CTSF1455NM_003793.4AR
DNAJC5597NM_025219.3AR
GLB12034NM_000404.4AR
HEXA1590NM_000520.6AR
HEXB1671NM_000521.4AR
AR2763NM_000044.6XLR
ATP7B4398NM_000053.4AR
C9orf721446NM_018325.5AD
CHCHD10429NM_213720.3AD
DNAJC62913NM_001256864.2AR
FBXO71332NM_001033024.2AR
FUS1581NM_004960.4AD
FXN633NM_000144.5AR
GALNS1569NM_000512.5AR
HTT9429NM_002111.8AD, AR
PARK7570NM_007262.5AR
PINK11746NM_032409.3AR
PRKN1398NM_004562.3AR
SMN1885NM_000344.4AR
SOD1465NM_000454.5AD, AR
SYNJ14839NM_003895.3AR
TARDBP1245NM_007375.4AD
TFG1203NM_006070.6AR
VAPB732NM_004738.5AD
VPS13C11512NM_001018088.3AR

Infos zur Erkrankung

Synonyme
  • Alias: Beta-galactosidase-1 deficiency
  • Alias: Infantile GM1 gangliosidosis
  • Alias: Landing disease, Norman-Landing disease
  • Allelic: Hypospadias 1, XL (AR)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Allelic: Spinal muscular atrophy, Jokela type (CHCHD10
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Amyotrophic lateral sclerosis 8 (VAPB)
  • Androgen insensitivity (AR)
  • Androgen insensitivity, partial (AR)
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, AD (CTSF)
  • Ceroid lipofuscinosis, neuronal, 4A, Kufs type, (CLN6)
  • Ceroid lipofuscinosis, neuronal, 4B, Kufs type, AD (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Essential tremor, hereditary, 4 (FUS)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • GM1-gangliosidosis, type I (GLB1)
  • GM1-gangliosidosis, type II (GLB1)
  • GM1-gangliosidosis, type III (GLB1)
  • GM2-gangliosidosis, several forms (HEXA)
  • Hereditary motor and sensory neuropathy, Okinawa type (TFG)
  • Hex A pseudodeficiency (HEXA)
  • Huntington disease (HTT_CAG)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Parkinson disease 15, AR (FBXO7)
  • Parkinson disease 19a, juvenile-onset (DNAJC6)
  • Parkinson disease 19b, early-onset (DNAJC6)
  • Parkinson disease 23, AR, early onset (VPS13C)
  • Parkinson disease 6, early onset (PINK1)
  • Parkinson disease 7, AR early-onset (PARK7)
  • Parkinson disease, juvenile, type 2 (PRKN)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Spastic paraplegia 57, AR (TFG)
  • Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
  • Spinal muscular atrophy, late-onset, Finkel type (VAPB)
  • Spinal muscular atrophy-1-4 (SMN1)
  • Tay-Sachs disease (HEXA)
  • Wilson disease (ATP7B)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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