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IllnessGM1-Gangliosidosis typ I-II, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for GM1-Gangliosodosis type I-II comprising 25 curated genes according to the clinical signs

ID
GP0909
Number of genes
25 Accredited laboratory test
Examined sequence length
5,9 kb (Core-/Core-canditate-Genes)
40,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GLB12034NM_000404.4AR
GM2A582NM_000405.5AR
HEXA1590NM_000520.6AR
HEXB1671NM_000521.4AR
ASPA942NM_000049.4AR
ATXN72679NM_000333.4AD
CLN31317NM_001042432.2AR
CLN51077NM_006493.4AR
CLN6936NM_017882.3AR
CLN8861NM_018941.4AR
CTSA1497NM_000308.4AR
CTSD1239NM_001909.5AR
FGF14744NM_004115.4AD
GALC2058NM_000153.4AR
GALNS1569NM_000512.5AR
GBA11611NM_001005741.3AR
GFAP1299NM_002055.5AD
GNPTAB3771NM_024312.5AR
MFSD81557NM_152778.3AR
MTCL14996NM_015210.4AR
NEU11248NM_000434.4AR
PPT1921NM_000310.4AR
SMPD11896NM_000543.5AR
TPP11692NM_000391.4AR
TXN2501NM_012473.4AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined