Dilated Cardiomyopathy (DCM)

Dilated cardiomyopathy (DCM) usually presents with one or more of the following; i) heart failure with symptoms of congestion (edema, orthopnea or paroxysmal dyspnea); ii) reduced cardiac output, such as fatigue or dyspnea on exertion; arrhythmias and/or conduction system disease; iii) thromboembolic disease, mainly from left ventricular mural thrombus, including stroke. However, individuals with DCM may also be asymptomatic. The diagnosis of DCM is established by the finding of both left ventricular enlargement and systolic dysfunction, primarily determined by echocardiogram to measure cardiac chamber dimensions, ventricular thickness and ejection fraction. The prevalence of idiopathic DCM in the general population is at least 1/2,700. Dilated cardiomyopathy is due to inherited (genetic) or acquired (environmental or non-genetic) causes. DCM is most commonly due to acquired causes, such as ischemic injury from myocardial infarction, secondary to underlying coronary artery disease, or a variety of other insults or inflammatory conditions that cause damage to the myocardium. Hereditary DCM is characterized by left ventricular enlargement and systolic dysfunction, or a reduction in the myocardial force of contraction, in the absence of other cardiac, systemic or environmental causes. It is thought that approximately 20-50% of idiopathic DCM cases have a genetic basis.

Tests Available

Forms and Documents

Test Details

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, LMNA, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTD Mitochondrial, 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
  • 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
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

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

Billing

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

References

  1. Marian et al. (1995) Annual Review Of Medicine 46 :213-22 (PMID: 7598458)
  2. Maron et al. (2002) JAMA : the journal of the American Medical Association 287 (10):1308-20 (PMID: 11886323)
  3. Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.n
  4. Callis et al. (2010) Expert Review Of Molecular Diagnostics 10 (3):329-51 (PMID: 20370590)
  5. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2015 Sep 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http:/
  6. Towbin et al. (2015) Lancet : (PMID: 25865865)
  7. McNally E, MacLeod H et al. 2005 April 18 [Updated 2014 Jan 9]. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014
  8. Nava et al. (2000) Journal Of The American College Of Cardiology 36 (7):2226-33 (PMID: 11127465)
  9. Allanson JE, Roberts AE. Noonan Syndrome. 2001 Nov 15 [Updated 2011 Aug 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.g

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, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL1, FKRP, FKTN, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, 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
  • 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
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

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

Billing

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

References

  1. McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. 2005 Apr 18 [Updated 2014 Jan 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, S
  2. Nava et al. (2000) Journal of the American College of Cardiology 36 (7):2226-33 (PMID: 11127465)
  3. Fowler et al. (2009) Current Opinion In Cardiology 24 (1):74-81 (PMID: 19102039)
  4. Hedley et al. (2009) Human mutation 30 (9):1256-66 (PMID: 19606473)
  5. Brugada, Campuzano, Brugada, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.
  6. de et al. (2008) Pacing And Clinical Electrophysiology : Pace 31 (7):916-9 (PMID: 18684293)
  7. Napolitano C, Priori SG, Bloise R. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2014 Mar 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993
  8. Priori et al. (2002) Circulation 106 (1):69-74 (PMID: 12093772)
  9. Goldenberg et al. (2008) Current problems in cardiology 33 (11):629-94 (PMID: 18835466)
  10. Priori et al. (2004) Annals of the New York Academy of Sciences 1015:96-110 (PMID: 15201152)
  11. Alders M, Christiaans I. Long QT Syndrome. 2003 Feb 20 [Updated 2015 Jun 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih
  12. Tranebjærg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. 2002 Jul 29 [Updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available f
  13. Napolitano C, Splawski I, Timothy KW, et al. Timothy Syndrome. 2006 Feb 15 [Updated 2015 Jul 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: ht
  14. Statland JM, Tawil R, Venance SL. Andersen-Tawil Syndrome. 2004 Nov 22 [Updated 2015 Sep 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://w
  15. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2015 Sep 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http:/
  16. Marian et al. (1995) Annual Review Of Medicine 46 :213-22 (PMID: 7598458)
  17. Maron et al. (2002) JAMA : the journal of the American Medical Association 287 (10):1308-20 (PMID: 11886323)
  18. Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.n
  19. Callis et al. (2010) Expert Review of Molecular Diagnostics 10(3):329-51 (PMID: 20370590)
  20. Towbin JA et al. (2015) Lancet 386(9995):813-25 (PMID: 25865865)
  21. Allanson J and Roberts A. (Updated 2016 Feb 25). Noonan Syndrome. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle.1997-2012. Available from: http://www.ncbi.nlm.nih.gov/boo

Forms and Documents

Test Details

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 Mitochondrial, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PRDM16, RAF1, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with DCM/LVNC
  • Differentiation of hereditary DCM from acquired (non-genetic) causes of DCM/LVNC
  • Recurrence risk calculation
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J554
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

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

References

  1. Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: {115200; 604169}: {04/21/2015; 09/04/2013}: World Wide Web URL: http://omim.org/
  2. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2013 May 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://w
  3. Callis et al. (2010) Expert review of molecular diagnostics 10(3):329-351 (PMID: 20370590)
  4. Bennett et al. (2016) Cardiology Research and Practice 2016:5172308 (PMID: 26881173)
  5. Rooms et al. (2015) Acta Cardiol 70 (6):625-31 (PMID: 26717209)
  6. Hershberger RE, Kushner JD, Parks SB. Dilated Cardiomyopathy Overview. GeneReviews. 2008. www.genetests.orgHunt et al. (2005) Circulation 112(12):e154-235 (PMID: 16160202)
  7. Herman et al. (2012) The New England Journal Of Medicine 366 (7):619-628 (PMID: 22335739)

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

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

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

Billing

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

References

  1. Marian et al. (1995) Annual Review Of Medicine 46 :213-22 (PMID: 7598458)
  2. Maron et al. (2002) JAMA : the journal of the American Medical Association 287 (10):1308-20 (PMID: 11886323)
  3. Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.n
  4. Callis et al. (2010) Expert Review Of Molecular Diagnostics 10 (3):329-51 (PMID: 20370590)
  5. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2015 Sep 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http:/
  6. Towbin et al. (2015) Lancet : (PMID: 25865865)
  7. McNally E, MacLeod H et al. 2005 April 18 [Updated 2014 Jan 9]. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014
  8. Nava et al. (2000) Journal Of The American College Of Cardiology 36 (7):2226-33 (PMID: 11127465)
  9. Allanson JE, Roberts AE. Noonan Syndrome. 2001 Nov 15 [Updated 2011 Aug 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.g

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

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

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

Billing

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

References

  1. McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. 2005 Apr 18 [Updated 2014 Jan 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, S
  2. Nava et al. (2000) Journal of the American College of Cardiology 36 (7):2226-33 (PMID: 11127465)
  3. Fowler et al. (2009) Current Opinion In Cardiology 24 (1):74-81 (PMID: 19102039)
  4. Hedley et al. (2009) Human mutation 30 (9):1256-66 (PMID: 19606473)
  5. Brugada, Campuzano, Brugada, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.
  6. De et al. (2008) Pacing And Clinical Electrophysiology : Pace 31 (7):916-9 (PMID: 18684293)
  7. Napolitano C, Priori SG, Bloise R. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2014 Mar 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993
  8. Priori et al. (2002) Circulation 106 (1):69-74 (PMID: 12093772)
  9. Goldenberg et al. (2008) Current problems in cardiology 33 (11):629-94 (PMID: 18835466)
  10. Priori et al. (2004) Annals of the New York Academy of Sciences 1015:96-110 (PMID: 15201152)
  11. Alders M, Christiaans I. Long QT Syndrome. 2003 Feb 20 [Updated 2015 Jun 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih
  12. Tranebjærg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. 2002 Jul 29 [Updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available f
  13. Napolitano C, Splawski I, Timothy KW, et al. Timothy Syndrome. 2006 Feb 15 [Updated 2015 Jul 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: ht
  14. Statland JM, Tawil R, Venance SL. Andersen-Tawil Syndrome. 2004 Nov 22 [Updated 2015 Sep 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://w
  15. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2015 Sep 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http:/
  16. Marian et al. (1995) Annual Review Of Medicine 46 :213-22 (PMID: 7598458)
  17. Maron et al. (2002) JAMA : the journal of the American Medical Association 287 (10):1308-20 (PMID: 11886323)
  18. Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.n
  19. Callis et al. (2010) Expert Review of Molecular Diagnostics 10(3):329-51 (PMID: 20370590)
  20. Towbin JA et al. (2015) Lancet 386(9995):813-25 (PMID: 25865865)
  21. Allanson J and Roberts A. (Updated 2016 Feb 25). Noonan Syndrome. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle.1997-2012. Available from: http://www.ncbi.nlm.nih.gov/boo

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
  • Exon Array CGH

Ordering

J779
4 weeks

Billing

Varies by gene
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 DCM/LVNC
  • Differentiation of hereditary DCM from acquired (non-genetic) causes of DCM/LVNC
  • Recurrence risk calculation

Customizable Cardiology Panel

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J554C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81405x1, 81406x1, 81407x2
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: {115200; 604169}: {04/21/2015; 09/04/2013}: World Wide Web URL: http://omim.org/
  2. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2013 May 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://w
  3. Callis et al. (2010) Expert review of molecular diagnostics 10(3):329-351 (PMID: 20370590)
  4. Bennett et al. (2016) Cardiology Research and Practice 2016:5172308 (PMID: 26881173)
  5. Rooms et al. (2015) Acta Cardiol 70 (6):625-31 (PMID: 26717209)
  6. Hershberger RE, Kushner JD, Parks SB. Dilated Cardiomyopathy Overview. GeneReviews. 2008. www.genetests.orgHunt et al. (2005) Circulation 112(12):e154-235 (PMID: 16160202)
  7. Herman et al. (2012) The New England Journal Of Medicine 366 (7):619-628 (PMID: 22335739)