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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessDopamine beta-hydroxylase deficiency, differential doagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Dopamine beta-hydroxylase deficiency comprising 6 curated genes according to the clinical signs

ID
DP9253
Number of genes
6 Accredited laboratory test
Examined sequence length
1,9 kb (Core-/Core-canditate-Genes)
13,2 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
DBH1854NM_000787.4AR
ATP7A4503NM_000052.7XLR
COQ21266NM_015697.9AR
CYB5611045NM_001017916.2AR
ELP13999NM_003640.5AR
TTR444NM_000371.4AD

Informations about the disease

Synonyms
  • Alias: DBH-Mangel
  • Alias: Noradrenalin-Mangel (DBH)
  • Allelic: Carpal tunnel syndrome, familial (TTR)
  • Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
  • Allelic: Menkes disease (ATP7A)
  • Amyloidosis, hereditary, transthyretin-related (TTR)
  • Dysautonomia, familial (ELP1)
  • Multiple system atrophy, susceptibility to (COQ2)
  • Occipital horn syndrome (ATP7A)
  • Orthostatic hypotension 1, due to DBH deficiency (DBH)
  • Orthostatic hypotension 2 (CYP561)
  • Spinal muscular atrophy, distal, XL 3 (ATP7A)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined