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IllnessPlötzlicher Herztod, Differentialdiagnose [2022]

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Summary

Short information

Comprehensive differential diagnostic panel for Sudden cardiac death comprising 28 guideline-curated and altogether 66 curated genes according to the clinical signs

ID
PP0655
Number of loci
Loci typeCount
Gen59
Accredited laboratory test
Examined sequence length
209,8 kb (Core-/Core-canditate-Genes)
256,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ANK211874NM_001148.6AD
CACNA1C6417NM_000719.7AD
CACNB21821NM_201590.3AD
CALM1450NM_006888.6AD
CASQ21200NM_001232.4AR
DES1413NM_001927.4AD, AR
DMD11058NM_004006.3XLR
DMPK1920NM_001081563.2AD
DSC22706NM_024422.6AD, AR
DSG23357NM_001943.5AD
DSP8616NM_004415.4AD, AR
EMD765NM_000117.3XLR
FKRP1488NM_024301.5AR
FLNC8178NM_001458.5AD
JUP2238NM_002230.4AD, AR
KCNH23480NM_000238.4AD
KCNJ21284NM_000891.3AD
KCNQ12031NM_000218.3AD, AR
LDB3852NM_001080116.1AD
LMNA1995NM_170707.4AD
MYBPC33825NM_000256.3AD, AR
MYH75808NM_000257.4AD
PKP22646NM_004572.4AD
RYR214904NM_001035.3AD
SCN5A6051NM_198056.3AD
TAFAZZIN879NM_000116.5XL
TRDN2190NM_006073.4AR
TTN100272NM_001267550.2AD
ACTC11134NM_005159.5AD
ACTN22685NM_001103.4AD
BAG31728NM_004281.4AD
CALM2450NM_001743.6AD
CALM3450NM_005184.4AD
CDH22721NM_001792.5AD
CSRP3585NM_003476.5AD
DOLK1617NM_014908.4AR
FHL1843NM_001449.5XL
FHOD34320NM_025135.5AD
FKTN1386NM_001079802.2AR
GLA1290NM_000169.3XL
HCN43612NM_005477.3AD
JPH22091NM_020433.5AD, AR
KCNE1390NM_000219.6AD, AR
LAMP21233NM_002294.3XL
MYL2501NM_000432.4AD
MYL3588NM_000258.3AD, AR
NEXN2028NM_144573.4AD
NKX2-5975NM_004387.4AD
PLN159NM_002667.5AD
PRKAG21710NM_016203.4AD
RBM203684NM_001134363.3AD
TMEM431203NM_024334.3AD
TNNC1486NM_003280.3AD
TNNI3633NM_000363.5AD, AR
TNNI3K2508NM_015978.3AD
TNNT2867NM_001001430.3AD
TPM1855NM_001018005.2AD
TTR444NM_000371.4AD
VCL3405NM_014000.3AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_PP0655

 

Synonyms
  • Allelic: Atrial fibrillation, familial, 10 (SCN5A)
  • Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
  • Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
  • Allelic: Becker muscular dystrophy (DMD)
  • Allelic: Duchenne muscular dystrophy (DMD)
  • Allelic: Heart block, nonprogressive (SCN5A)
  • Allelic: Heart block, progressive, type IA (SCN5A)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Andersen syndrome (KCNJ2)
  • Arrhythmogenic right ventricular dysplasia 10 (DSG2)
  • Arrhythmogenic right ventricular dysplasia 11 (DSC2)
  • Arrhythmogenic right ventricular dysplasia 11, mild palmoplantar keratoderma + woolly hair (DSC2)
  • Arrhythmogenic right ventricular dysplasia 2 (RYR2)
  • Arrhythmogenic right ventricular dysplasia 8 (DSP)
  • Arrhythmogenic right ventricular dysplasia 9 (PKP2)
  • Barth syndrome (TAZ)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 3 (CACNA1C)
  • Brugada syndrome 4 (CACNB2)
  • Cardiac arrhythmia, ankyrin-B-related (ANK2)
  • Cardiomyopathy, dilated, 1A (LMNA)
  • Cardiomyopathy, dilated, 1BB (DSG2)
  • Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1G (TTN)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 3B (DMD)
  • Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
  • Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Cardiomyopathy, familial restrictive 5 (FLNC)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Hypertrophic cardiomyopathy [MONDO:0005045, panelapp] (TRIM63)
  • Jervell + Lange-Nielsen syndrome (KCNQ1)
  • Left ventricular noncompaction 10 (MYBPC3)
  • Left ventricular noncompaction 3 (LDB3)
  • Left ventricular noncompaction 5 (MYH7)
  • Long QT syndrome 1 (KCCNQ1)
  • Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
  • Long QT syndrome 14 (CALM1)
  • Long QT syndrome 2 (KCNH2)
  • Long QT syndrome 2, acquired, susceptibility to (KCNH2)
  • Long QT syndrome 3 (SCN5A)
  • Long QT syndrome 4 (ANK2)
  • Long QT syndrome 8 (CACNA1C)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
  • Myotonic dystrophy 1 (DPMK_CTG)
  • Naxos disease (JUP)
  • Restrictive cardiomyopathy [MONDO:0005201, panelapp] (TRIM63)
  • Short QT syndrome 1 (KCNH2)
  • Short QT syndrome 2 (KCNQ1)
  • Short QT syndrome 3 (KCNJ2)
  • Sudden infant death syndrome, susceptibility to (SCN5A)
  • Timothy syndrome (CACNA1C)
  • Ventricular arrythmias due to cardiac RYR2 calcium release deficiency syndrome (RYR2)
  • Ventricular fibrillation, familial, 1 (SCN5A)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
  • Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (CALM1)
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with/-out muscle weakness (TRDN)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined