©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungGM1-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-/Basis-Gene)
40,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
GLB12034AR
GM2A582AR
HEXA1590AR
HEXB1671AR
ASPA942AR
ATXN72679AD
CLN31317AR
CLN51077AR
CLN6936AR
CLN8861AR
CTSA1497AR und/oder Mult
CTSD1239AR
FGF14744AD
GALC2058AR
GALNS1569AR
GBA1611AD und/oder AR und/oder Sus
GFAP1299AD
GNPTAB3771AR
MFSD81557AR
MTCL14996AR
NEU11248AR
PPT1921AR
SMPD11896AR
TPP11692AR
TXN2501AR

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
  • AD und/oder AR und/oder Sus
  • AR
  • AR und/oder Mult
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E75.1

Bioinformatik und klinische Interpretation

Kein Text hinterlegt