Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is characterized by myocardial hypertrophy in the absence of other cardiac or systemic causes. HCM is most frequently caused by mutations in genes encoding for the sarcomeric proteins in the cardiac muscle leading to myocyte disarray, a hallmark feature of HCM .1,2 Less commonly, ventricular hypertrophy is a presenting feature of genetic systemic disorders, such as Danon disease, Fabry disease, or mitochondrial cardiomyopathy1. HCM has a variable clinical presentation; ranging from asymptomatic to sudden death. The prevalence of HCM in the general population is 0.2% or 1/500, affecting males and females equally. The initial presentation of HCM can be as benign as a heart murmur noted on a physical examination, while other patients may present with symptoms of palpitations, chest pain, heart failure or syncope. HCM is most commonly characterized by left ventricular hypertrophy (LVH) on echocardiogram.

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, 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

ACTC1, ACTN2, ALPK3, CAV3, CSRP3, FHL1, FLNC, GAA, GLA, JPH2, LAMP2, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, PLN, PRKAG2, RAF1, RIT1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies (i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis)
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J553
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
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

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies (i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis)

Customizable Cardiology Panel

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

J553C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
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

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

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