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)
43,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
HEXA | 1590 | AR | |
HEXB | 1671 | AR | |
AR | 2763 | XLR und/oder SMu | |
ASPA | 942 | AR | |
C9orf72 | 1446 | AD | |
CHCHD10 | 429 | AD | |
CLN3 | 1317 | AR | |
CLN5 | 1077 | AR | |
CLN6 | 936 | AR | |
CLN8 | 861 | AR | |
CTSA | 1497 | AR und/oder Mult | |
CTSD | 1239 | AR | |
CTSF | 1455 | AR | |
DNAJC5 | 597 | AD | |
FUS | 1581 | AD und/oder AR und/oder Gen Fusion | |
FXN | 633 | AR und/oder Ass | |
GALC | 2058 | AR | |
GBA | 1611 | AD und/oder AR und/oder Sus | |
GFAP | 1299 | AD | |
GLB1 | 2034 | AR | |
GM2A | 582 | AR | |
GNPTAB | 3771 | AR | |
MFSD8 | 1557 | AR | |
NEU1 | 1248 | AR | |
PPT1 | 921 | AR | |
SMN1 | 885 | AR | |
SMPD1 | 1896 | AR | |
SOD1 | 465 | AD und/oder AR | |
TARDBP | 1245 | AD | |
TFG | 1203 | AD und/oder AR | |
TPP1 | 1692 | AR | |
VAPB | 732 | AD |
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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