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

IllnessTrimethylaminuria, primary; differential diagnosis

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Summary

Short information

DNA sequence analysis of 1 core candidate gene and altogether 2 curated genes for the clinical suspected diagnosis of Trimethylaminurie, primary; differential diagnosis

ID
TP9364
Number of genes
2 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
4,2 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
FMO31599NM_001002294.3AR
DMGDH2601NM_013391.3AR

Informations about the disease

Synonyms
  • Alias: FMO3 deficiency
  • Alias: Fish malodor syndrome
  • Alias: Fish odor syndrome
  • Alias: Primary Trimethylaminuria
  • Alias: Stale fish syndrome
  • Alias: TMAU
  • Alias: TMAuria
  • Dimethylglycine dehydrogenase deficiency (DMGDH)
  • Trimethylaminuria (FMO3)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined