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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGM1-Gangliosidosis type I-III

Request form illness

Summary

Short information

Curated three gene sequence analysis when GM1-Gangliosidossis type is suspected I-III

ID
GS1029
Number of genes
1 Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GLB12034NM_000404.4AR

Informations about the disease

Clinical Comment

Lysosomal storage disorder with deficient beta-galactosidase, clinically wide range of variable neurovisceral, ophthalmological + dysmorphic features

 

Synonyms
  • Alias: Beta-galactosidase-1 deficiency (GLB1)
  • Alias: Infantile GM1 gangliosidosis (GLB1)
  • Alias: Landing disease, Norman-Landing disease (GLB1)
  • GM1-gangliosidosis, type I-III (GLB1)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined