Deutsch
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Heredity |
|---|---|---|---|
| SCN9A | 5934 | AD, 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
I73.8
Bioinformatics and clinical interpretation
No text defined