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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSick sinus syndrome, familial; differential diagnosis


Short information

Comprehensive differential diagnostic panel for Sick sinus syndrome, familial, comprising 9 guideline-curated genes and altogether12 curated genes according to the clinical signs

Number of genes
5 Accredited laboratory test
Examined sequence length
23,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MYH75808NM_000257.4AD, AR
SCN5A6051NM_198056.3AD, AR

Informations about the disease

Clinical Comment

Cardiac rhythm disease, usually of elderly, sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, symptoms like syncope, dizziness, palpitations, fatigue, heart failure. Malfunction of the cardiac conduction system, probably secondary to fibrosis of nodal tissue or secondary to cardiac disorders


  • Alias: Familial sick sinus syndrome
  • Allelic: Atrial fibrillation, familial, 10 (SCN5A)
  • Allelic: Atrial septal defect 3 (MYH6)
  • Allelic: Atrial standstill, digenic (GJA5/SCN5A)
  • Allelic: Brugada syndrome 1 (SCN5A)
  • Allelic: Brugada syndrome 3 (CACNA1C)
  • Allelic: Brugada syndrome 8 (HCN4)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Long QT syndrome 3 (SCN5A)
  • Allelic: Long QT syndrome 8 (CACNA1C)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Atrial fibrillation, familial, 11 (GJA5)
  • Cardiomyopathy, dilated, 1A (LMNA)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1EE (MYH6)
  • Cardiomyopathy, dilated, 1G (TTN)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 1Z (TNNC1)
  • Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 13 (TNNC1)
  • Cardiomyopathy, hypertrophic, 14 (MYH6)
  • Congenital myopathy 7A, myosin storage, AD (MYH7)
  • Congenital myopathy 7B, myosin storage, AR (MYH7)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Emery-Dreifuss muscular dystrophy 2 + 3, AD + AR (LMNA)
  • Heart block, nonprogressive (SCN5A)
  • Heart block, progressive, type IA (SCN5A)
  • Hyperaldosteronism, familial, type III (SLC8A1)
  • Intellectual developmental disorder + cardiac arrhythmia (GNB5)
  • Laing distal myopathy (MYH7)
  • Language delay and ADHD/cognitive impairment +/- cardiac arrhythmia (GNB5)
  • Left ventricular noncompaction 5 (MYH7)
  • Long QT syndrome 13 (SLC8A1)
  • Muscular dystrophy, congenital (LMNA)
  • Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Salih myopathy (TTN)
  • Sick sinus syndrome 1 (SCN5A)
  • Sick sinus syndrome 2 (HCN4)
  • Tibial muscular dystrophy, tardive (TTN)
  • Timothy syndrome (CACNA1C)
  • Ventricular fibrillation, familial, 1 (SCN5A)
Heredity, heredity patterns etc.
  • AD
  • AR
  • n.k.
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined