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Klinische FragestellungBrugada-Syndrom [erweitertes panel], Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Brugada Syndrom mit 1 Leitlinien-kuratierten "core"-Gen bzw. insgesamt 42 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
BP0150
Anzahl Gene
18 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
6,1 kb (Core-/Core-canditate-Gene)
45,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
SCN5A6051NM_198056.3AD
ABCC94650NM_005691.4Ass
CACNA1C6417NM_000719.7AD
CACNA2D13276NM_000722.4AD
CACNB21821NM_201590.3AD
GPD1L1056NM_015141.4AD
KCND31968NM_004980.5AD
KCNE3312NM_005472.5Ass
KCNE5429NM_012282.4Ass
KCNH23480NM_000238.4Ass
KCNJ81275NM_004982.4AD
RANGRF561NM_016492.5AD
SCN10A5871NM_006514.4Ass
SCN1B657NM_001037.5AR
SCN2B648NM_004588.5Ass
SCN3B648NM_018400.4AD
SLMAP2436NM_007159.5AD
TRPM43645NM_017636.4Ass

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: Arrhythmogenic right ventricular dysplasia 8 (DSP)
  • Allelic: Arrhythmogenic right ventricular dysplasia 9 (PKP2)
  • 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: Atrial fibrillation, familial, 16 (SCN3B)
  • Allelic: Atrial fibrillation, familial, 4 (KCNE2)
  • Allelic: Bronchiectasis +/- elevated sweat chloride 2 (SCNN1A)
  • Allelic: Cardiac conduction defect, nonspecific (SCN1B)
  • Allelic: Cardiomyopathy, dilated, 1 (TTN)
  • Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
  • Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
  • Allelic: Cardiomyopathy, dilated, 1P (PLN) 3
  • Allelic: Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
  • Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Allelic: Cardiomyopathy, hypertrophic, 18 (PLN)
  • Allelic: Congenital myopathy 5 + cardiomyopathy (TTN)
  • Allelic: Developmental and epileptic encephalopathy 110 (CACNA2D1)
  • Allelic: Developmental and epileptic encephalopathy 47 (FGF12)
  • Allelic: Dilated cardiomyopathy with woolly hair, keratoderma, tooth agenesis (DSP)
  • Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
  • Allelic: Epilepsy, gen., febrile seizures plus, 1 (SCN1B)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HNC4)
  • Allelic: Epileptic encephalopathy, early infant., 52 (SCN1B)
  • Allelic: Episodic pain syndrome, familial, 2 (SCN10A)
  • Allelic: Erythroderma, congenital, + palmoplantar keratoderma, hypotrichosis, hyper IgE (DSG1)
  • Allelic: Erythrokeratodermia veriabilis et progressiva 6 (TRPM4)
  • Allelic: Heart block, nonprogressive (SCN5A)
  • Allelic: Heart block, progressive, type IA (SCN5A)
  • Allelic: Holt-Oram syndrome (TBX5)
  • Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Hypertrichotic osteochondrodysplasia (ABCC9)
  • Allelic: Hypogonadotropic hypogonadism 16 +/- anosmia (SEMA3A)
  • Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Hypokalemic tubulopathy and deafness (KCNJ16)
  • Allelic: Keratosis palmoplantaris striata I, AD (DSG1)
  • Allelic: Keratosis palmoplantaris striata II (DSP)
  • Allelic: LQTS2; SQTS1 (KCNH2)
  • Allelic: Liddle syndrome 3 (SCNN1A)
  • Allelic: Long QT syndrome (CACNA1C)
  • Allelic: Long QT syndrome 2 (KCNH2)
  • Allelic: Long QT syndrome 3 (SCN5A)
  • Allelic: Long QT syndrome 6 (KCNE2)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Allelic: Myasthenic syndrome, congenital, 16 (SCN4A)
  • Allelic: Myopathy, myofibrillar, 9, + early respiratory failure (TTN)
  • Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
  • Allelic: Paramyotonia congenita (SCN4A)
  • Allelic: Progressive familial heart block, type IB (TRPM4)
  • Allelic: Pseudohypoaldosteronism, type IB1, AR (SCNN1A)
  • Allelic: Short QT syndrome 1 (KCNH2)
  • Allelic: Short stature, developmental delay, and congenital heart defects (TKT)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Allelic: Sick sinus syndrome 2 (HNC4)
  • Allelic: Skin fragility-woolly hair syndrome (DSP)
  • Allelic: Spinocerebellar ataxia 19 (KCND3)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Allelic: Timothy syndrome (CACNA1C)
  • Allelic: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release def. s. (RYR2)
  • Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
  • Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
  • Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
  • 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 8 (HNC4)
  • Brugada syndrome 9 (KCND3)
  • Brugada syndrome ass. (CACNA2D1, CASQ2, DSG1, DSP, FGF12, HEY2, KCNAB2, KCNB2, KCND2, KCNE2)
  • Brugada syndrome ass. (KCNE5, KCNH2, KCNJ16, KCNJ8, LRRC10, PLN, PKP2, RANGRF, RYR2, SCN10A)
  • Brugada syndrome ass. (SCN2B, SCN4A, SCNN10A, SLMAP, TBX5, TKT, TRPM4, TTN, XIRP1, XIRP2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Ass
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I49.8

Bioinformatik und klinische Interpretation

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