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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessIsolated Sulfite Oxidase Deficiency; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Isolated Sulfite Oxidase Deficiency containing 1 core gene and altogether 10 curated genes according to the clinical signs

ID
SP1324
Number of genes
9 Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
12,9 kb (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
SUOX1638NM_000456.3AR
ALDH7A11620NM_001182.5AR
AMT1212NM_000481.4AR
GCSH522NM_004483.5AR
GLDC3063NM_000170.3AR
GPHN2310NM_020806.5AD, AR
MOCS11158NM_001075098.4AR
MOCS2567NM_004531.5AR
PNPO786NM_018129.4AR

Informations about the disease

Synonyms
  • Alias: Enzephalopathie durch Sulfitoxidase-Mangel
  • Alias: Isolated sulfite oxidase deficiency
  • Alias: Sulfocysteinuria
  • Cofactor deficiency, brain edema, lens luxation (MOCS3)
  • Epilepsy, pyridoxine-dependent (ALDH7A1)
  • Glycine encephalopathy (AMT, GCSH, GLDC)
  • Molybdenum cofactor deficiency A (MOCS1)
  • Molybdenum cofactor deficiency B (MOCS2)
  • Molybdenum cofactor deficiency C (GPHN)
  • Pyridoxamine 5'-phosphate oxidase deficiency (PNPO)
  • Sulfite oxidase deficiency (SUOX)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined