English
Klinische FragestellungGM1-Gangliosidose Typ I-II, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für GM1-Gangliosidose Typ I-II mit 25 kuratierten Genen je nach klinischer Verdachtsdiagnose
ID
GP0909
Anzahl Gene
25
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
5,9 kb (Core-/Core-canditate-Gene)
40,3 kb (Erweitertes Panel: inkl. additional genes)
40,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| GLB1 | 2034 | NM_000404.4 | AR | |
| GM2A | 582 | NM_000405.5 | AR | |
| HEXA | 1590 | NM_000520.6 | AR | |
| HEXB | 1671 | NM_000521.4 | AR | |
| ASPA | 942 | NM_000049.4 | AR | |
| ATXN7 | 2679 | NM_000333.4 | AD | |
| CLN3 | 1317 | NM_001042432.2 | AR | |
| CLN5 | 1077 | NM_006493.4 | AR | |
| CLN6 | 936 | NM_017882.3 | AR | |
| CLN8 | 861 | NM_018941.4 | AR | |
| CTSA | 1497 | NM_000308.4 | AR | |
| CTSD | 1239 | NM_001909.5 | AR | |
| FGF14 | 744 | NM_004115.4 | AD | |
| GALC | 2058 | NM_000153.4 | AR | |
| GALNS | 1569 | NM_000512.5 | AR | |
| GBA1 | 1611 | NM_001005741.3 | AR | |
| GFAP | 1299 | NM_002055.5 | AD | |
| GNPTAB | 3771 | NM_024312.5 | AR | |
| MFSD8 | 1557 | NM_152778.3 | AR | |
| MTCL1 | 4996 | NM_015210.4 | AR | |
| NEU1 | 1248 | NM_000434.4 | AR | |
| PPT1 | 921 | NM_000310.4 | AR | |
| SMPD1 | 1896 | NM_000543.5 | AR | |
| TPP1 | 1692 | NM_000391.4 | AR | |
| TXN2 | 501 | NM_012473.4 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Beta-galactosidase-1 deficiency
- Alias: Infantile GM1 gangliosidosis
- Alias: Landing disease, Norman-Landing disease
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Macular dystrophy with central cone involvement (MFSD8)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Allelic: Spinocerebellar ataxia, AR 7 (TPP1)
- Alexander disease (GFAP)
- Canavan disease (ASPA)
- Ceroid lipofuscinosis, neuronal, 1 (PPT1)
- Ceroid lipofuscinosis, neuronal, 10 (CTSD)
- Ceroid lipofuscinosis, neuronal, 2 (TPP1)
- Ceroid lipofuscinosis, neuronal, 3 (CLN3)
- 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)
- Combined oxidative phosphorylation deficiency 29 (TXN2)
- GM1-gangliosidosis, type I-III (GLB1)
- GM2-gangliosidosis, AB variant (GM2A)
- GM2-gangliosidosis, several forms (HEXA)
- Galactosialidosis (CTSA)
- Gaucher disease, perinatal lethal (GBA)
- Gaucher disease, type I, II, III + IIIC (GBA)
- Hex A pseudodeficiency (HEXA)
- Krabbe disease (GALC)
- Mucolipidosis II alpha/beta (GNPTAB)
- Mucolipidosis III alpha/beta (GNPTAB)
- Mucopolysaccharidosis IVA (GALNS)
- Mucopolysaccharidosis type IVB, Morquio (GLB1)
- Niemann-Pick disease, type A (SMPD1)
- Niemann-Pick disease, type B (SMPD1)
- Sandhoff disease, infantile, juvenile, + adult forms (HEXB)
- Sialidosis, type I (NEU1)
- Sialidosis, type II (NEU1)
- Spinocerebellar ataxia 27 (FGF14)
- Spinocerebellar ataxia 7 (ATXN7_CAG)
- Spinocerebellar ataxia; mild ID, seizures, episodic pain [panelapp] (MTCL1)
- Tay-Sachs disease (HEXA)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E75.1
Bioinformatik und klinische Interpretation
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