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ErkrankungMorbus Sandhoff, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Morbus Sandhoff mit 2 Leitlinien-kuratierten "core" Genen sowie insgesamt 36 [auch teilweise Leitlinien-] 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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