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ErkrankungMorbus Sandhoff, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Morbus Sandhoff mit 32 kuratierten Genen je nach klinischer Verdachtsdiagnose

ID
SP0901
Anzahl Gene
32 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,3 kb (Core-/Basis-Gene)
43,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
HEXA1590AR
HEXB1671AR
AR2763XLR und/oder SMu
ASPA942AR
C9orf721446AD
CHCHD10429AD
CLN31317AR
CLN51077AR
CLN6936AR
CLN8861AR
CTSA1497AR und/oder Mult
CTSD1239AR
CTSF1455AR
DNAJC5597AD
FUS1581AD und/oder AR und/oder Gen Fusion
FXN633AR und/oder Ass
GALC2058AR
GBA1611AD und/oder AR und/oder Sus
GFAP1299AD
GLB12034AR
GM2A582AR
GNPTAB3771AR
MFSD81557AR
NEU11248AR
PPT1921AR
SMN1885AR
SMPD11896AR
SOD1465AD und/oder AR
TARDBP1245AD
TFG1203AD und/oder AR
TPP11692AR
VAPB732AD

Infos zur Erkrankung

Synonyme
  • Alias: GM2-Gangliosidose (HEXA, HEXB, GM2A)
  • Alias: Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Allelic: Androgen insensitivity (AR)
  • Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
  • Allelic: Essential tremor, hereditary, 4 (FUS)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • Allelic: Hypospadias 1, XL (AR)
  • Allelic: Macular dystrophy with central cone involvement (MFSD8)
  • Alexander disease (GFAP)
  • Amyotrophic lateral sclerosis 1 (SOD1)
  • Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
  • Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
  • Amyotrophic lateral sclerosis 8 (VAPB)
  • Canavan disease (ASPA)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type (CTSF)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset (CLN6)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • GM1-gangliosidosis, type I, II + III (GLB1)
  • GM2-gangliosidosis, AB variant (GM2A)
  • Galactosialidosis (CTSA)
  • Gaucher disease, perinatal lethal (GBA)
  • Gaucher disease, type I, II, III + IIIC
  • Hereditary motor + sensory neuropathy, Okinawa type (TFG)
  • Krabbe disease (GALC)
  • Mucolipidosis II + III alpha/beta (GNPTAB)
  • Mucopolysaccharidosis type IVB [Morquio] (GLB1)
  • Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Niemann-Pick disease, type A + B (SMPD1)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Sialidosis, type I + II (NEU1)
  • Spastic paraplegia 57, AR (TFG)
  • Spastic tetraplegia + axial hypotonia, progressive (SOD1)
  • Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
  • Spinal muscular atrophy, Jokela type (CHCHD10)
  • Spinal muscular atrophy, late-onset, Finkel type (VAPB)
  • Spinal muscular atrophy-1, -2, -3 + -4 (SMN1)
  • Spinocerebellar ataxia, AR 7 (TPP1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Gen Fusion
  • AD und/oder AR und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder Mult
  • XLR und/oder SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E75.0

Bioinformatik und klinische Interpretation

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