English
ErkrankungBrugada-Syndrom [erweitertes panel], Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Brugada Syndrom mit 7 bzw. 18 kuratierten Genen (incl. des CORE Gens) gemäß klinischer Verdachtsdiagnose
ID
BP0150
Anzahl Gene
18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
6,1 kb (Core-/Basis-Gene)
45,3 kb (Erweitertes Panel)
45,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| SCN5A | 6051 | AD und/oder AR und/oder Dig | |
| ABCC9 | 4650 | AD und/oder Dig | |
| CACNA1C | 6417 | AD | |
| CACNA2D1 | 3276 | AD | |
| CACNB2 | 1821 | AD | |
| GPD1L | 1056 | AD | |
| KCND3 | 1968 | AD | |
| KCNE3 | 312 | AD | |
| KCNE5 | 429 | XL | |
| KCNH2 | 3480 | AD und/oder Dig | |
| KCNJ8 | 1275 | AD | |
| RANGRF | 561 | AD | |
| SCN10A | 5871 | AD | |
| SCN1B | 657 | AD und/oder AR | |
| SCN2B | 648 | AD | |
| SCN3B | 648 | AD | |
| SLMAP | 2436 | AD | |
| TRPM4 | 3645 | AD |
Infos zur Erkrankung
Klinischer Kommentar
ST-Segment Hebungen rechts präcordial, in-/kompletter Rechtsschenkelblock, Neigung zu ventrikulärer Tachyarrhythmie + plötzlichem Tod; "elektrische Erkrankung" ohne offenkundige myokardiale Abweichungen
Synonyme
- Alias: BGS 1 (SCN5A)
- Alias: BGS; BRGDS; Bangungut; Dream disease; Pokkuri death syndrome
- Alias: Idiopathic ventricular fibrillation, Brugada type
- Alias: Right bundle branch block, ST segment elevation, Sudden death syndrome
- Alias: Sudden unexplained nocturnal death syndrome, SUNDS
- Allelic: ; Atrial fibrillation, familial, 16 (SCN3B)
- Allelic: Atrial fibrillation, familial, 10 (SCN5A)
- Allelic: Atrial fibrillation, familial, 12 (ABCC9)
- Allelic: Atrial fibrillation, familial, 13 (SCN1B)
- Allelic: Atrial fibrillation, familial, 14 (SCN2B)
- Allelic: Cardiac conduction defect, nonspecific (SCN1B)
- Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
- Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
- Allelic: Epilepsy, gen., febrile seizures plus, 1 (SCN1B)
- Allelic: Epileptic encephalopathy, early infant., 52 (SCN1B)
- Allelic: Episodic pain syndrome, familial, 2 (SCN10A)
- Allelic: Erythrokeratodermia veriabilis et progressiva 6 (TRPM4)
- Allelic: Heart block, nonprogressive (SCN5A)
- Allelic: Heart block, progressive, type IA (SCN5A)
- Allelic: Hypertrichotic osteochondrodysplasia (ABCC9)
- Allelic: LQTS2; SQTS1 (KCNH2)
- Allelic: Long QT syndrome (CACNA1C)
- Allelic: Long QT syndrome 2 (KCNH2)
- Allelic: Long QT syndrome 3 (SCN5A)
- Allelic: Progressive familial heart block, type IB (TRPM4)
- Allelic: Short QT syndrome 1 (KCNH2)
- Allelic: Sick sinus syndrome 1 (SCN5A)
- Allelic: Spinocerebellar ataxia 19 (KCND3)
- Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
- Allelic: Timothy syndrome (CACNA1C)
- Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
- Brugada syndrome (KCNE5)
- Brugada syndrome 1 (SCN5A)
- Brugada syndrome 2 (GPD1L)
- Brugada syndrome 3 (CACNA1C)
- Brugada syndrome 4 (CACNB2)
- Brugada syndrome 5 (SCN1B)
- Brugada syndrome 6 (KCNE3)
- Brugada syndrome 7 (SCN3B)
- Brugada syndrome 9 (KCND3)
- Brugada syndrome/Brugada like syndrome (CACNA2D1, KCNH2, KCNJ8, RANGRF, SLMAP)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder Dig
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I49.8
Bioinformatik und klinische Interpretation
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