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, 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

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
  • 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, such as Fabry Disease and Amyloidosis
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J553
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. 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; 1993-2016. Available from: http://www.n
  2. Bennett S. Pharmacogenomics. 2004;5(4):433-8 (PubMed: 15165179)Maron et al. (2003) J. Am. Coll. Cardiol. 41 (6):974-80 (PMID: 12651044)
  3. Sekijima Y, Yoshida K, Tokuda T, et al. Familial Transthyretin Amyloidosis. 2001 Nov 5 [Updated 2012 Jan 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Availab
  4. D\'souza et al. (2014) Circulation. Heart Failure 7 (5):843-9 (PMID: 25228319)
  5. Mehta A, Hughes DA. Fabry Disease. 2002 Aug 5 [Updated 2013 Oct 17]. 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.gov/book
  6. Dominic et al. (2014) Heart (British Cardiac Society) 100 (8):611-8 (PMID: 24449718)
  7. Friedrich et al. (2012) Human Molecular Genetics 21 (14):3237-54 (PMID: 22523091)
  8. B. Maron, M. Maron, & Semsarian (2012) J. Am. Coll. Cardiol. 60 (8):705-15 (PMID: 22796258)
  9. Frey, Luedde, & Katus (2012) Nature Reviews. Cardiology 9 (2):91-100 (PMID: 22027658)
  10. Ingles et al. (2015) Circ Cardiovasc Genet 8 (6):852-9 (PMID: 26671970)
  11. Hershberger et al. (2009) Journal Of Cardiac Failure 15 (2):83-97 (PMID: 19254666)
  12. Stenson et al. (2014) Human genetics 133 (1):1-9 (PMID: 24077912)
  13. Pan et al. (2012) Circulation. Cardiovascular Genetics 5 (6):602-10 (PMID: 23074333)
  14. Van Rijsingen et al. (2009) Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation 17 (12):458- 63 (PMID: 20087448)
  15. Girolami et al. (2010) Journal Of The American College Of Cardiology 55 (14):1444-53 (PMID: 20359594)
  16. Gersh et al. (2011) Circulation 124 (24):2761-96 (PMID: 22068435)
  17. Olson et al. (2002) Circulation 105 (20):2337-40 (PMID: 12021217)

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

  • 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, such as Fabry Disease and Amyloidosis

Customizable Cardiology Panel

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J553C
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. 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; 1993-2016. Available from: http://www.n
  2. Bennett S. Pharmacogenomics. 2004;5(4):433-8 (PubMed: 15165179)Maron et al. (2003) J. Am. Coll. Cardiol. 41 (6):974-80 (PMID: 12651044)
  3. Sekijima Y, Yoshida K, Tokuda T, et al. Familial Transthyretin Amyloidosis. 2001 Nov 5 [Updated 2012 Jan 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Availab
  4. D\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'souza et al. (2014) Circulation. Heart Failure 7 (5):843-9 (PMID: 25228319)
  5. Mehta A, Hughes DA. Fabry Disease. 2002 Aug 5 [Updated 2013 Oct 17]. 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.gov/book
  6. Dominic et al. (2014) Heart (British Cardiac Society) 100 (8):611-8 (PMID: 24449718)
  7. Friedrich et al. (2012) Human Molecular Genetics 21 (14):3237-54 (PMID: 22523091)
  8. B. Maron, M. Maron, & Semsarian (2012) J. Am. Coll. Cardiol. 60 (8):705-15 (PMID: 22796258)
  9. Frey, Luedde, & Katus (2012) Nature Reviews. Cardiology 9 (2):91-100 (PMID: 22027658)
  10. Ingles et al. (2015) Circ Cardiovasc Genet 8 (6):852-9 (PMID: 26671970)
  11. Hershberger et al. (2009) Journal Of Cardiac Failure 15 (2):83-97 (PMID: 19254666)
  12. Stenson et al. (2014) Human genetics 133 (1):1-9 (PMID: 24077912)
  13. Pan et al. (2012) Circulation. Cardiovascular Genetics 5 (6):602-10 (PMID: 23074333)
  14. Van Rijsingen et al. (2009) Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation 17 (12):458- 63 (PMID: 20087448)
  15. Girolami et al. (2010) Journal Of The American College Of Cardiology 55 (14):1444-53 (PMID: 20359594)
  16. Gersh et al. (2011) Circulation 124 (24):2761-96 (PMID: 22068435)
  17. Olson et al. (2002) Circulation 105 (20):2337-40 (PMID: 12021217)

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