Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially fatal cardiac arrhythmia in individuals with a structurally normal heart. The disorder is characterized by syncope, typically beginning in the first decade of life, which may be triggered by physical activity or intense emotion. In patients with CPVT, stress- induced release of catecholamines causes a dysfunction of calcium-ion channel in myocytes. The ion channel dysfunction induces ventricular arrhythmias, which can lead to syncope or sudden cardiac death. Spontaneous recovery from the arrhythmia is possible, but the ventricular tachycardia can progress to ventricular fibrillation and sudden death. The incidence of CPVT within the population is not precisely known, but is estimated to be 1:10,000. Symptoms include syncope, dizziness, arrhythmia, and sudden cardiac death. Diagnosis may prove difficult, due to normal echocardiogram and electrocardiogram at a resting state. Testing must be performed under stress-inducing conditions in order to accurately evaluate a possible diagnosis.

Tests Available

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

ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with CPVT
  • Recurrence risk calculation
  • Differentiation of hereditary CPVT from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

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

Billing

81403x1, 81405x1, 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ANK2, CALM1, CALM2, CALM3, CASQ2, CAV3, KCNE1, KCNE2, KCNH2(HERG), KCNJ2, KCNQ1, PPA2, RYR2, SCN5A
  • Genetic diagnosis in sudden unexplained death
  • Recurrence risk information for family members
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J552
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

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 CPVT
  • Recurrence risk calculation
  • Differentiation of hereditary CPVT from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation

Customizable Cardiology Panel

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

81403x1, 81405x1, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Genetic diagnosis in sudden unexplained death
  • Recurrence risk information for family members

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J552C
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

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, 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