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Cardiology Genetics

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Cardiology Genetic Testing Services

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes. except where noted.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

 

Arrhythmia Genetic Testing Options

Test Available Genes More Information
Arrhythmia Panel (46 genes)  ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1*, CALM2, CALM3, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNE1L^, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, NKX2-5, PKP2, PLN, RANGRF, RYR2, SCN10A, SCN1B^, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43, TRDN, TRPM4, TTN   Test Info Sheet

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel (13 genes)

DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN

  Test Info Sheet

  LOMN

Brugada Syndrome (BrS )Panel (14 genes)

ABCC9, CACNA1C, CACNB2, GPD1L, KCND3, KCNE3, KCNJ8, PKP2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, TRPM4

  Test Info Sheet

  LOMN

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel (7 genes) CALM1*, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TRDN

  Test Info Sheet 

  LOMN

Long QT Syndrome (LQTS) Panel (17 genes) AKAP9, ANK2, CACNA1C, CALM1*, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN

  Test Info Sheet

 LOMN

Sudden Cardiac Arrest (SCA) Panel (13 genes) ANK2, CALM1*, CALM2, CALM3, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A

  Test Info Sheet

   Post-Mortem

Short QT Syndrome (SQTS) Panel (5 genes) CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1

  Test Info Sheet

  LOMN

Combined Cardiac Panel (120 genes) ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1*, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD^, FHL1, FKRP, FKTN, GATAD1, GLA, GPD1L, HCN4, HRAS*, ILK, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNE1L^, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MTND1*, MTND5*, MTND6*, MTTD*, MTTG*, MTTH*, MTTI*, MTTK*, MTTL1*, MTTL2*, MTTM*, MTTQ*, MTTS1*, MTTS2*, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, RYR2, SCN10A, SCN1B^, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, SOS1, TAZ^, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL

  Test Info Sheet

* Del/Dup analysis not offered; ^ Gene level resolution; may not detect exon level events

 

Cardiomyopathy Genetic Testing Options

Test Available Genes More Information
Cardiomyopathy Panel (91 genes) ABCC9, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CAV3, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD^, FHL1, FKRP, FKTN, GATAD1, GLA, HCN4, HRAS*, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3 (ZASP), LMNA, MAP2K1, MAP2K2, MIB1, MTND1*, MTND5*, MTND6*, MTTD*, MTTG*, MTTH*, MTTI*, MTTK*, MTTL1*, MTTL2*, MTTM*, MTTQ*, MTTS1*, MTTS2*, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1,RBM20, RIT1, RYR2, SCN5A, SGCD, SOS1, TAZ^, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL Test Info Sheet

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel (13 genes)

DES, DSC2, DSG2, DSP, JUP, LMNA, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN

Test Info Sheet

LOMN

Dilated Cardiomyopathy (DCM)/Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel (61 genes)

ABCC9, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD^, FKTN, GATAD1, ILK, LAMA4, LAMP2, LDB3, LMNA, MIB1, MTND1*, MTND5*, MTND6*, MTTD*, MTTH*, MTTI*, MTTK*, MTTL1*, MTTL2*, MTTM*, MTTQ*, MTTS1*, MTTS2*, MYH6, MYH7, MYBPC3, MYPN, NEBL, NEXN, PLN, PRDM16, RAF1, RBM20, SCN5A, SGCD, TAZ^, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2 , VCL

Test Info Sheet

LOMN

Hypertrophic Cardiomyopathy (HCM) Panel (25 genes) ACTC1, ACTN2, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, MTTG*, MTTI*, MTTK*, MTTQ*, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL

Test Info Sheet

LOMN

Combined Cardiac Panel (120 genes) ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1*, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD^, FHL1, FKRP, FKTN, GATAD1, GLA, GPD1L, HCN4, HRAS*, ILK, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNE1L^, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MTND1*, MTND5*, MTND6*, MTTD*, MTTG*, MTTH*, MTTI*, MTTK*, MTTL1*, MTTL2*, MTTM*, MTTQ*, MTTS1*, MTTS2*, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, RYR2, SCN10A, SCN1B^, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, SOS1, TAZ^, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL

Test Info Sheet

* Del/Dup analysis not offered; ^ Gene level resolution; may not detect exon level events

 

Marfan/TAAD and Other Connective Tissue Testing Options

Test Available Genes More Information
Marfan Syndrome, Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders Panel (23 genes) ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1 , TGFBR2

Test Info Sheet

LOMN

 

FBN1 Sequencing and Deletion/Duplication Testing (1 gene)

FBN1

Test Info Sheet

Rest of Marfan Syndrome/TAAD and Related Disorders Panel (22 genes)

ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN2, FLNA, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1 , TGFBR2

Test Info Sheet

LOMN

Heritable Disorders of Connective Tissue (HDCT) Panel (49 genes)

ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6*, B4GALT7, CBS, CHST14, COL11A1,COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469

Test Info Sheet

* Del/Dup analysis not offered; ^ Gene level resolution; may not detect exon level events

 

Familial Hypercholesterolemia Testing Options

Test Available Genes More Information
Familial Hypercholesterolemia (FH) Panel (4 genes) APOB, LDLR, LDLRAP1, PCSK9 Test Info Sheet

LOMN

 

 

We are very excited to offer a variety of cardiology testing options to help meet the needs of each individual patient. Providers will now have the opportunity to customize our cardiology panels to optimize the diagnostic testing for their patients. Learn more about our customizable testing options by clicking here.

Available Customizable Testing Options:

Customize one of our expertly curated panels: This testing option allows providers to start with one of our expertly curated panels, and add any additional genes that would benefit their patients.Available customizable panels options are displayed below:

Create your own custom panel: This testing option allows providers to create a completely custom panel by choosing all of the genes they would like to include on their panel.

Other Cardiac-Related Genetic Testing Options

Test Available Genes More Information
Hereditary Hemorrhagic Telangiectasia (HHT) Panel (5 genes) ACVRL1, ENG, GDF2, RASA1, SMAD4 Test Info Sheet
Pulmonary Arterial Hypertension (PAH) Panel (7 genes) ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, GDF2, SMAD9 Test Info Sheet
Noonan Syndrome and RASopathies Panel (19 genes) A2ML1*, ACTB*, ACTG1*, BRAF*, CBL*, HRAS*, KAT6B*, KRAS*, LZTR1*, MAP2K1*, MAP2K2*, NRAS*, PTPN11*, RAF1*, RIT1*, SOS1*, SOS2*, SHOC2*, SPRED1* Test Info Sheet
Alagille Syndrome Testing (1 gene) JAG1 Test Info Sheet
Cardiac Amyloidosis Testing (1 gene) TTR* (sequencing only) Test Info Sheet
Supravalvular Aortic Stenosis Testing (1 gene) ELN* (sequencing only) Test Info Sheet
Holt Oram Syndrome Testing (1 gene) TBX5* (sequencing only) Test Info Sheet
GenomeDx: Whole-Genome Chromosome Microarray (CMA) Whole genome array CGH Test Info Sheet

* Del/Dup analysis not offered; ^ Gene level resolution; may not detect exon level events

Click the questions below for the answer

Q:How is genetic testing for inherited cardiac disorders performed at GeneDx?

A:Once a specimen is received at GeneDx, it goes through the following steps:

  1. Next Generation Sequencing: Multiple genes offered in a test panel are analyzed simultaneously using a new technology developed for high-throughput sequencing (“next generation sequencing”) to achieve high sensitivity with high efficiency. This method is also flexible and permits adding new genes to the existing panel without delay or significant cost increase.
  2. Confirmation of Results by Dideoxy Sequencing: All mutations identified by next generation sequencing are confirmed by traditional dideoxy sequencing, or another appropriate method.
  3. Additional Studies to Evaluate Variants of Unknown Significance (VOUS): When indicated, the presence or absence of novel sequence variants in representative, ethnically-matched control populations is evaluated using either publicly available resources or targeted laboratory studies.
  4. Result Interpretation and Reporting: Results are analyzed and interpreted at minimum by a geneticist and a genetic counselor, and are then reported to the ordering physician.
  5. Experts Are Only a Phone Call or Email Away: At GeneDx, our technical services are matched by our expertise and customer support. Our growing staff includes more than 30 experts in molecular and clinical genetics, cardiology and genetic counseling, who are just a phone call or email away. Our team works together on each individual case to provide unequivocal test sensitivity, efficiency and expertise. Genetic counselors are available to answer your questions and help manage patient cases through the testing experience.

Q:What is the significance of follow-up testing for family members?

A:Identification of a disease-causing mutation in an affected individual allows for mutation-specific genetic testing of at-risk family members. This includes family members who are clinically asymptomatic and who may have normal cardiac evaluations. Knowing whether at-risk family members harbor the disease-causing mutation can provide information for subsequent medical management and treatment, risk-assessments and prenatal diagnosis in future pregnancies if desired.

For more information on carrier testing, please click here.

For more information on prenatal diagnosis, please click here.

Q:What is the utility of genetic testing for such diseases?

A:There are several reasons an individual or family may be referred for genetic testing in cardiac disorders. Genetic testing in a clinically affected patient can clarify the diagnosis, assist in treatment decisions and stratify risk management of family members. Diagnostic genetic testing can also help in differential diagnosis. For example, genetic testing in patients with symptoms of HCM can differentiate hereditary HCM from heart disease due to other causes, such as “Athlete’s Heart” and from HCM associated with mutations in sarcomeric genes from phenocopies, such as Fabry disease and Amyloidosis. Mutation-specific testing assists in risk assessment of asymptomatic family members, and if desired, prenatal testing is available.

Q:What information could come from performing a genetic test for cardiac disorders?

A:The table below shows possible outcomes for an individual who opts for genetic testing::

Clinical Presentation
Genetic Testing Result
Patient should continue to be followed by a cardiologist.
Management
Recommendations for Family Members
 
+
Positive
True positive. Mutation identified is disease-causing.
Patient should continue to be followed by a cardiologist.
Testing of family members is recommended. Those with negative results are not at an increased risk for the disease.
 

 

+
Negative
Genetic testing does not rule out the disease.
Patient should continue to be followed by a cardiologist
Testing of family members not indicated, however, clinical follow up is recommended.
 

 

+
VOUS
Genetic testing at this time is uninformative.
Patient should continue to be followed by a cardiologist. Testing of additional family members is necessary.
If symptomatic family members are found to have the same variant, it is more likely that the variant is disease-causing. If symptom free family members have the same variant, it is more likely that the variant is benign.
 

 

Positive
Patient is at risk for developing the disease
Patient should have follow-up evaluation and surveillance to assess risk.
Testing of family members is recommended. Those with negative results are not at an increased risk for the disease.
 

 

Negative
Patient is unlikely to be at an increased risk for the disease.
Recommendations should be made based on extended family history.
Testing of family members is not indicated.
 

 

VOUS
Genetic testing at this time is uninformative.
Dependent on additional testing of family members.
If symptomatic family members are found to have the same variant, it is more likely that the variant is disease-causing. If symptom free family members have the same variant, it is more likely that the variant is benign.
 

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