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

IllnessErythromelalgia, primary

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Erythromelalgia (primary)

ID
ES7768
Number of genes
1 Accredited laboratory test
Examined sequence length
6,0 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
SCN9A5934NM_002977.3AD, AR

Informations about the disease

Clinical Comment

Intermittent attacks of red, warm, painful burning extremities arising spontaneously during early childhood/adolescence without detectable underlying disorder.

 

Synonyms
  • Allelic: Dravet syndrome, modifier of (SCN9A)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 7 (SCN9A)
  • Allelic: Erythermalgia, primary (SCN9A)
  • Allelic: Febrile seizures, familial, 3B (SCN9A)
  • Allelic: HSAN2D, AR (SCN9A)
  • Allelic: Insensitivity to pain, congenital (SCN9A)
  • Allelic: Paroxysmal extreme pain disorder (SCN9A)
  • Allelic: Small fiber neuropathy (SCN9A)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined