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

IllnessMorbus Schindler

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Morbus Schindler

ID
MS9812
Number of genes
1 Accredited laboratory test
Examined sequence length
1,3 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
NAGA1236NM_000262.3AR

Informations about the disease

Clinical Comment

Extreme variability, 3 clinical subtypes: Type 1 infantile-onset neuroaxonal dystrophy, type 2 adult patients with angiokeratoma corporis diffusum, minimal involvement nervous system, type 3 intermediate with intellectual impairment, neurological dysfunction, seizures/milder neurological + psychiatric issues, speech + language delays, mild autism-like symptoms

 

Synonyms
  • Alias: Alpha-N-acetylgalactosaminidase deficiency (NAGA)
  • Alias: NAGA deficiency (NAGA)
  • Alias: Neuroaxonal dystrophy, Schindler type (NAGA)
  • Schindler disease, type I + III (NAGA)
  • Schindler disease, type II; Kanzaki disease (NAGA)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined