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Custom Arrhythmogenic Cardiomyopathy Panel

Custom Arrhythmogenic Cardiomyopathy Panel

What is arrhythmogenic cardiomyopathy?

Arrhythmogenic cardiomyopathy (ACM) is also called arrhythmogenic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia (ARVD). ACM is a type of non-ischemic cardiomyopathy that primarily involves the right ventricle, though there have been cases of the left ventricular disease. Early clinical manifestations of arrhythmogenic cardiomyopathy include intermittent & sustained palpitations, cardiac arrest and arrhythmic syncope. The development of heart failure associated symptoms, including chest pain, elevated serum troponin levels and ST-segment changes on the electrocardiogram (ECG), typically occurs later in the disease process. The morbidity of ACM is estimated to be between 0.02% and 0.1%. ACM usually occurs in people between the ages of 30 and 40 and rarely affects children and adolescents. Arrhythmogenic cardiomyopathy is an inherited disease characterized by the risk of myocardial dysfunction, life-threatening arrhythmias and fibrofatty replacement of myocardial tissue. The mutations in genes that encode desmosomes and the adhesive junctions that connect cardiomyocytes, are the primary cause of ACM.

Disease-related gene description

DES encodes a muscle-specific class III intermediate filament. The DES homopolymers form a stable intracytoplasmic filamentous network that connects the myofibrils to each other and the plasma membrane. DES mutations are associated with desmin-related myopathy, familial cardiac & skeletal myopathy (CSM) and distal myopathy. Potassium ion channels are necessary for many cellular functions and show a high degree of diversity, differing in their electrophysiologic and pharmacologic properties. These genes include KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1. KCNE1 encodes a transmembrane protein which is associated with the protein encoded by KVLQT1 to form the delayed rectifier potassium channel. Mutations in KCNE1 are associated with a long-QT syndrome. KCNE2 is expressed in heart and muscle, and the mutations in KCNE2 are associated with cardiac arrhythmia. Mutations in KCNJ2 are related to cardiac arrhythmias and other kinds of diseases.

Our company provides a custom comprehensive cardiomyopathy panel containing optimized genes that are related to arrhythmogenic cardiomyopathy. You can select the genes only you need to customize your panel. Illumina MiSeq system is provided to efficiently discover, validate and screen genetic variants among the arrhythmogenic cardiomyopathy-related genes.

Custom arrhythmogenic cardiomyopathy panel offers but are not limited to:

  • Illumina MiSeq/Ion PGM system provides unparalleled coverage uniformity and delivers highly targeted resequencing so that we can detect low- frequency arrhythmogenic cardiomyopathy variants.
  • Our customizable arrhythmogenic cardiomyopathy panel can meet your requirements, increasing throughput and saving costs.
  • Every genetic variant detected will be further validated to ensure the validity of results.
  • Strict quality control runs through the pipeline workflow, ensuring the accuracy and repeatability of sequencing.
  • Custom panel content is designed to keep up with the frontiers from current literature about arrhythmogenic cardiomyopathy to target all relevant regions.
  • You can choose panel content from our arrhythmogenic cardiomyopathy database or we can provide you with a personalized panel according to your cardiomyopathy requirements.

Choose the genes that suit you from the arrhythmogenic cardiomyopathy gene list

ACTN2 CTNNA3 HCN4 KCNJ8 PRKAG2
SNTA1 AKAP9 DES JUP KCNQ1
RANGRF TGFB3 ANK2 DSC2 KCNE1
LDB3 RBM20 TMEM43 ANKRD1 DSG2
KCNE2 LMNA RYR2 TNNI3 CACNA1C
DSP KCNE3 NKX2-5 SCN1B TNNT2
CACNB2 EMD KCNH2 PDLIM3 SCN3B
TTN CASQ2 FLNC KCNJ2 PKP2
SCN4B CAV3 GPD1L KCNJ5 PLN
SCN5A

Specimen requirements of our custom arrhythmogenic cardiomyopathy panel

  • Specimen: whole blood, saliva or extracted DNA (not FFPE-compatible).
  • Volume: 8 mL whole blood, 2 mL saliva or min. 1 μg DNA.
  • Collection: blood is collected by routine blood collection and saliva is collected by spitting into the provided container. DNA samples are stored in TE buffer or equivalent.
  • Container: lavender-top (EDTA) tube or yellow-top (ACD) tube.

Gene panel workflow

Gene panel workflow

For more information about the Custom Arrhythmogenic Cardiomyopathy Panel or need other amplification requirements, please contact us.

References:

  1. Piesanen J, et al. Association of Desmin Gene Variant rs1058261 with Cardiovascular Disease, the TAMRISK Study. Genet Test Mol Biomarkers, 2018 Sep;22(9):574-576.
  2. Shibuya K, et al. A study supporting possible expression of inward-rectifying potassium channel 2.1 channels in peripheral nerve in a patient with Andersen-Tawil syndrome. Muscle Nerve, 2019 Apr;59(4): E28-E30.
  3. Zerdazi EH, et al. QT length during methadone maintenance treatment: gene × dose interaction. Fundam Clin Pharmacol, 2019 Feb; 33(1):96-106.
  4. Nielsen JB, et al. Gain-of-function mutations in potassium channel subunit KCNE2 associated with early-onset lone atrial fibrillation. Biomark Med, 2014; 2014;8(4):557-70.
  5. Karyn M. Austin, et al. Molecular mechanisms of arrhythmogenic cardiomyopathy, Nature Reviews Cardiologyvolume 2019;16, 519–537.
* For Research Use Only. Not for use in diagnostic procedures.

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