Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC), also known as arrhythmogenic right ventricular dysplasia (ARVD), is a potentially life-threatening heart muscle disease that can cause sudden cardiac death in young persons and athletes. ARVC is a disorder of the cardiac desmosome – protein complexes that maintain cell-to-cell connections and provide mechanical attachments among adjacent cells. Myocyte death and replacement by fat and fibrous tissue in the right ventricle are the pathologic hallmarks of the disease, which may predispose to ventricular tachyarrhythmia and sudden cardiac death. The disease prevalence is estimated at 1:1000 to 1:2500, but may be higher in certain populations and because of non-diagnosed or misdiagnosed cases. Patients with ARVC typically develop symptoms between the second and fifth decade of life (mean age at diagnosis 31 years), however onset and severity are widely variable. The most common presenting symptoms of ARVC are heart palpitations, syncope, and sudden cardiac death. Many patients may be asymptomatic and diagnosed by routine electrocardiogram (ECG). Diagnosis is based on clinical findings, a combination of noninvasive and invasive testing, and family history. Diagnostic criteria were established by McKenna et al in 1994 and revised in 20104,5. The diagnostic approach includes the collection of various types of diagnostic information, including genetic, electrocardiographic, structural, and functional findings.

Tests Available

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CAV3, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATAD1, GLA, HCN4, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, 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, SHOC2, SOS1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TTN, TTR, TXNRD2, VCL
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

694
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81439x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HCN4, JUP, KCNA5 , KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2(HERG), KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYL4, NKX2-5, PKP2, PLN, PPA2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TECRL, TGFB3, TMEM43, TRDN, TRPM4, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

695
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GJA5, GLA, GNB5, GPD1L, HCN4, HFE, HRAS, ILK, JPH2, JUP, KCNA5 , KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2(HERG), KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SHOC2, SNTA1, SOS1, TAZ, TBX20, TCAP, TECRL, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

935
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, PKP2, PLN, RYR2, SCN5A, TGFB3, TMEM43, TTN
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with ARVC
  • Differentiation of hereditary ARVC from other acquired or genetic heart conditions
  • Recurrence risk calculation with a known mutation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

483
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x5
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

694C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81439x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

935C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with a hereditary cardiovascular condition

Customizable Cardiology Panel

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J779
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

Varies by gene
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

695C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81413x1, 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with ARVC
  • Differentiation of hereditary ARVC from other acquired or genetic heart conditions
  • Recurrence risk calculation with a known mutation

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

483C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x5
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

AKAP9, ANK2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, JUP, KCNA5 , KCNE1, KCNE1L(KCNE5), KCNE2, KCNJ2, KCNJ5, KCNQ1, LDB3, LMNA, MYL4, NKX2-5, PLN, PPA2, RANGRF, RYR2, SCN4B, SNTA1, TECRL, TGFB3, TMEM43, TRDN, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

481RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x2; 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ABCC9, AKAP9, CACNA1C, CACNA2D1, CACNB2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HCN4, JUP, KCNA5 , KCND3, KCNE1, KCNE1L(KCNE5), KCNE2, KCNE3, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYL4, NKX2-5, PKP2, PLN, PPA2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43, TRPM4, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

482RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1; 81406x2; 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ABCC9, CACNA2D1, CACNB2, CASQ2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HCN4, JUP, KCNA5 , KCND3, KCNE1L(KCNE5), KCNE3, KCNJ8, LDB3, LMNA, MYL4, NKX2-5, PKP2, PLN, PPA2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, TECRL, TGFB3, TMEM43, TRPM4, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

727RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404s1; 81406x2; 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ABCC9, AKAP9, CACNA1C, CACNA2D1, CACNB2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GATA4, GATA5, GATA6, GJA5, GNB5, GPD1L, HCN4, JUP, KCNA5 , KCND3, KCNE1L(KCNE5), KCNE3, KCNJ5, KCNJ8, LDB3, LMNA, MYL4, NKX2-5, PKP2, PLN, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SNTA1, TECRL, TGFB3, TMEM43, TRDN, TRPM4, TTN
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband with arrhythmia
  • Differentiation of hereditary arrhythmia from acquired (non-genetic) arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

J552RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1; 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ABCC9, AKAP9, ALMS1, ANKRD1, BAG3, BRAF, CHRM2, CRYAB, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, GATA4, GATAD1, HCN4, HFE, HRAS, ILK, JUP, KRAS, LAMA4, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MURC, MYLK2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PRDM16, PTPN11, RBM20, RYR2, SCN5A, SGCD, SHOC2, SOS1, TAZ, TBX20, TGFB3, TMEM43, TMPO, TOR1AIP1, TTN, TXNRD2
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

J553RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2; 81405x1; 81406x2; 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

AKAP9, ALPK3, BRAF, CAV3, CTNNA3, EYA4, FHL1, FKRP, GAA, GATA4, GLA, HFE, HRAS, JPH2, JUP, KRAS, MAP2K1, MAP2K2, MURC, MYL2, MYL3, MYLK2, MYOZ2, NRAS, PDLIM3, PKP2, PRKAG2, PTPN11, RIT1, SHOC2, SOS1, TGFB3, TMEM43, TOR1AIP1
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy
  • Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

J554RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2; 81405x2; 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, DMD, DOLK, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, GAA, GATA4, GATA5, GATA6, GATAD1, GJA5, GLA, GNB5, GPD1L, HCN4, HFE, HRAS, ILK, JPH2, KCNA5 , KCND3, KCNE1, KCNE1L(KCNE5), KCNE2, KCNE3, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LRRC10, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PPA2, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SGCD, SHOC2, SNTA1, SOS1, TAZ, TBX20, TCAP, TECRL, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TRDN, TRPM4, TTR, TXNRD2, VCL
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

483RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2; 81406x2; 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, GATA5, GATA6, GJA5, GNB5, GPD1L, KCNA5 , KCND3, KCNE1, KCNE1L(KCNE5), KCNE2, KCNE3, KCNJ2, KCNJ5, KCNJ8, KCNQ1, MYL4, PPA2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SNTA1, TECRL, TRDN, TRPM4
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

694RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1; 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CHRM2, CRYAB, CSRP3, DMD, DOLK, DTNA, EMD, EYA4, FHL1, FKRP, FKTN, GAA, GATAD1, GLA, HFE, HRAS, ILK, JPH2, KRAS, LAMA4, LAMP2, LRRC10, 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, NRAS, PDLIM3, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, SGCD, SHOC2, SOS1, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TTR, TXNRD2, VCL
  • Molecular confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with cardiomyopathy and/or arrhythmia
  • Differentiation of hereditary cardiomyopathy and/or arrhythmia from acquired (non-genetic) cardiomyopathy and/or arrhythmia
  • Recurrence risk calculation
  • Next-Gen Sequencing
  • ExonArray CGH

Ordering

695RE
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1; 81405x2; 81406x2; 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com