Genetic Services >> PanelSure | NGS >> CardioSure | Panel

CardioSure | Panel

Sidebar Image
Condition Description  Genes
Disease Tested Specimen Requirement

 

Condition Description

Defined as a disease of the heart muscle, cardiomyopathy can be characterized by the muscle enlargement (dilated), thickening (hypertrophied), or rigidness causing the heart to work less efficiently leading to heart failure, arrhythmias, and/or sudden death. Patients can develop cardiomyopathy due to a variety of reasons, including but not limited to: long-term high-blood pressure, coronary artery disease, uncontrolled heart rhythm, infection, metabolic disorders, and/or nutritional deficiencies. In rare cases individuals are born with a genetic predisposition due to gene associated pathogenic variants. Genetic testing can help determine if an individual carries a disease-causing variant in a gene that has been associated with a heritable risk to develop cardiomyopathy, as well as potentially provide valuable information to the patient and their family about future medical management.

Patients or families with one or more of the following conditions may benefit from genetic testing:

  •           Cardiomyopathy or enlarged heart
  •           ICD/Pacemaker placement at <50 years of age
  •           Heart failure and/or transplant
  •           Exercise intolerance
  •           Unexplained cardiac arrest(s) or sudden death
  •           Unexplained accidents such as downing and single car accidents

Genes

A2ML1*, ABCC9, ACTA2, ACTB*, ACTC1, ACTG1*, ACTN2, ACVRL1, ADAMTS2, AKAP9, ALDH18A1, ALMS1, ALPK3, ANK2, ANKRD1, APOB, ATP6V0A2, ATP7A, B3GALT6*, B4GALT7, BAG3, BMPR2, BRAF*, CACNA1C, CACNA2D1, CACNB2, CALM1*, CALM2, CALM3, CASQ2, CAV1, CAV3, CBL*, CBS, CHRM2, CHST14, COL11A2, COL1A1, COL1A2, COL2A1,   COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSE, DSG2, DSP, DTNA, EFEMP2, EIF2AK4, ELN*, EMD*, ENG, FBLN5, FBN1, FBN2, FHL1, FKBP14, FKRP, FKTN, FLNA, GATAD1, GDF2, GLA, GPD1L, HCN4, HRAS*, ILK, JAG1, JPH2, JUP, KAT6B*, KCND3, KCNE1, KCNE1L*, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS*, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LMNA, LTBP4, LZTR1*, MAP2K1, MAP2K1*, MAP2K2, MAP2K2*, MAT2A, MED12, MFAP5, MIB1, MTND1*, MTND5*, MTND6*, MTTD*, MTTG*, MTTH*, MTTI*, MTTK*, MTTL1*, MTTL2*, MTTM*, MTTQ*, MTTS1*, MTTS2*, MURC, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NOTCH1, NRAS, NRAS*, PCSK9, PDLIM3, PKP2, PLN, PLOD1, PRDM16, PRDM5, PRKAG2, PRKG1, PTPN11, PTPN11*, PYCR1, RAF1, RAF1*, RANGRF, RASA1, RBM20, RIN2, RIT1, RIT1*, RYR2, SCN10A, SCN1B*, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SHOC2*, SKI,SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD9, SNTA1, SOS1*, SOS2*, SPRED1*, TAZ*, TBX5*, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TTR*, TXNRD2, VCL, ZNF469

(* Del/Dup analysis not offered)

Disease Tested

  •           Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
  •           Brugada Syndrome (BrS)
  •           Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
  •           Long QT Syndrome (LQTS)
  •           Sudden Cardiac Arrest (SCA)
  •           Short QT Syndrome (SQTS)
  •           Atherosclerosis
  •           Dilated Cardiomyopathy (DCM)
  •           Left Ventricular Non-Compaction Cardiomyopathy (LVNC)
  •           Hypertrophic Cardiomyopathy (HCM)
  •           Marfan Syndrome
  •           Thoracic Aortic Aneurysm and Dissection (TAAD)
  •           Heritable Disorders of Connective Tissue (HDCT)
  •           Familial Hypercholesterolemia (FH)
  •           Hereditary Hemorrhagic Telangiectasia (HHT)
  •           Pulmonary Arterial Hypertension (PAH)
  •           Noonan Syndrome and RASopathies
  •           Alagille Syndrome
  •           Cardiac Amyloidosis
  •           Supravalvular Aortic Stenosis     
  •           Holt Oram Syndrome 

Specimen Requirement

3-5 ml EDTA Blood