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IllnessBrugada-Syndrom [EMQN 2023]
Summary
Short information
Curated single gene sequence analysis according to clinical suspicion on Brugada syndrome
ID
BS0159
Number of loci
| Loci type | Count |
|---|---|
| Gen | 1 |
Examined sequence length
6,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
BS0150_DH
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| SCN5A | 6051 | NM_198056.3 | AD |
Informations about the disease
Clinical Comment
ST segment elevation in right precordial leads, incomplete/complete right bundle branch block, susceptibility to ventricular tachyarrhythmia + sudden death; electrical disorder without overt myocardial abnormalities
Synonyms
- Alias: BGS 1
- Alias: Bangungut
- Alias: Idiopathic ventricular fibrillation, Brugada type
- Alias: Pokkuri death syndrome
- Alias: Sudden unexpected nocturnal death syndrome
- Alias: Sudden unexplained death syndrome
- Allelic: Atrial fibrillation, familial, 10 (SCN5A)
- Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
- Allelic: Heart block, nonprogressive (SCN5A)
- Allelic: Heart block, progressive, type IA (SCN5A)
- Allelic: Long QT syndrome 3 (SCN5A)
- Allelic: Sick sinus syndrome 1 (SCN5A)
- Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
- Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
- Brugada syndrome 1 (SCN5A)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined