Cardiology Genetic Testing Services

Cardiomyopathies

DCM/LVNC Panel

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)|Buccal Swabs

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)
HCM Panel

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)|Buccal Swabs

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)
Combined Cardiac Panel

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)|Buccal Swabs

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
Cardiomyopathy Panel

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)|Buccal Swabs

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
ARVC Panel

Forms and Documents

Test Details

DES, DSC2, DSG2, DSP, JUP, 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
  • Exon Array CGH
  • 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

References

  1. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
  2. 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,
  3. Nava A, Bauce B, Basso C, Muriago M, et al.. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2000; 36: 2226-33. (PubMed: 11127465)
  4. diol. 2000; 36: 2226-33. (PubMed: 11127465) 4. McKenna WJ, Thiene G, Nava A, et al. Diagnosis of arrhythmogenic right ventricular dysplasia / cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Car
  5. Marcus FI et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the Task Force Criteria. Eur Heart J. 31:806-814, 2010 (PubMed: 20172912)
  6. Jacob K, Noorman M, Cox M, et al. Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy. Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Arrhythmias

SCA Arrhythmia Panel

Forms and Documents

Test Details

ANK2, CALM1, CALM2, CALM3, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A
  • Genetic diagnosis in sudden unexplained death
  • Recurrence risk information for family members
  • Exon Array CGH
  • 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

References

  1. Prutkin et al. (2008) Prog Cardiovasc Dis 50(6):390-403 (PMID: 18474283)
  2. Haissaguerre et al. (2008) N Eng J Med. 358(19):2016-2023 ( PMID: 18463377)
  3. Tester and Ackerman (2009) Ann Rev Med. 60:69-84 (PMID: 18928334)
  4. Tester et al. (2012) Mayo Clinic Proceedings 87 (6):524-39 (PMID: 22677073)
  5. 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
  6. Brugada, Campuzano, Brugada, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon, Adam, Ardinger, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.n
  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; 199
  8. Hedley et al. (2009) Hum Mutation 30:1-11 (PMID: 19606473)
  9. Priori et al. (2002) Circulation 106: 69-74 (PMID: 12093772)
  10. Skinner et al. (2011) Heart Rhythm 8(3):412-419 (PMID: 21070882)
  11. Gladding et al. (2010) Heart Rhythm 7:481-486 (PMID: 20167303)
  12. Tester et al. (2007) JACC 49 (2):240-6 (PMID: 17222736)
SQTS Panel

Forms and Documents

Test Details

CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment for asymptomatic family members of a proband with SQTS
  • Recurrence risk calculation
  • Prenatal diagnosis in families with a known mutation
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J551
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

References

  1. Gussak et al. (2001) Cardiology 94:99-102 (PMID: 11173780)
  2. Gaita et al. (2003) Circulation 108:965-970 (PMID: 12925462)
  3. Scimpf et al. (2008) Curr Opin Cardiol 23:192-198 (PMID: 18382206)
  4. Crotti et al. (2010). Indian Pacing and Electrophysiology Journal 10(2):86-95 (PMID: 20126594)
  5. Antzelevitch et al. (2007) Circulation 115 (4):442-9 (PMID: 17224476)
Combined Cardiac Panel

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)|Buccal Swabs

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
LQTS Panel

Forms and Documents

Test Details

AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment for asymptomatic family members of a proband with LQTS
  • Differentiation of hereditary LQTS from acquired (non-genetic) causes of LQTS.
  • Prenatal diagnosis in families with a known pathogenic variant
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

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

Billing

81403 x1, 81404x1, 81406x2, 81414x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Lehnart et al. (2007) Circulation 116 (20):2325-45 (PMID: 17998470)
  2. Vincent, et al. (1998) Annual Review Of Medicine 49 :263-74 (PMID: 9509262)
  3. Arnestad et al. (2007) Circulation 115 (3):361-7 (PMID: 17210839)
  4. Ackerman MJ et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Associat
  5. Eddy et al. (2008) Heart Rhythm : The Official Journal Of The Heart Rhythm Society 5 (9):1275-81 (PMID: 18774102)
  6. Tester et al. (2010) The American Journal Of Cardiology 106 (8):1124-8 (PMID: 20920651)
Arrhythmia Panel

Forms and Documents

Test Details

ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, DES, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, NKX2-5, PKP2, PLN, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, 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
  • Exon Array CGH
  • 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

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; 199
  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.ni
  12. ranebjærg 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 fr
  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://
  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:
ARVC Panel

Forms and Documents

Test Details

DES, DSC2, DSG2, DSP, JUP, 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
  • Exon Array CGH
  • 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

References

  1. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
  2. 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,
  3. Nava A, Bauce B, Basso C, Muriago M, et al.. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2000; 36: 2226-33. (PubMed: 11127465)
  4. diol. 2000; 36: 2226-33. (PubMed: 11127465) 4. McKenna WJ, Thiene G, Nava A, et al. Diagnosis of arrhythmogenic right ventricular dysplasia / cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Car
  5. Marcus FI et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the Task Force Criteria. Eur Heart J. 31:806-814, 2010 (PubMed: 20172912)
  6. Jacob K, Noorman M, Cox M, et al. Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy. Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart
CPVT Panel

Forms and Documents

Test Details

CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, 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
  • Exon Array CGH
  • 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

References

  1. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM.
  2. 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
  3. Liu et al. Progress In Cardiovascular Diseases 51 (1):23-30 (PMID: 18634915)
  4. Priori et al. (2002) Circulation 106 (1):69-74 (PMID: 12093772)
  5. Tester et al. (2006) Heart Rhythm : The Official Journal Of The Heart Rhythm Society 3 (7):800-5 (PMID: 16818210)
  6. Nyegaard et al. (2012) American Journal of Human Genetics 91 (4):703-12 (PMID: 23040497)
  7. Marsman et al. (2014) J. Am. Coll. Cardiol. 63 (3):259-66 (PMID: 24076290)
  8. Makita et al. (2014) Circulation. Cardiovascular Genetics 7(4):466-74 (PMID: 24917665)
  9. Gomez-Hurtado et al. (2016) Circ Arrhythm Electrophysiol 9(8):e004161 (PMID: 27516456)
  10. Roux-Buisson et al. (2012) Human Molecular Genetics 21(12):2759-67 (PMID: 22422768)
  11. Rooryck et al. (2015) J. Cardiovasc. Electrophysiol. 26 (10):1146-50 (PMID: 26200674)
BrS Panel

Forms and Documents

Test Details

ABCC9, CACNA1C, CACNB2, GPD1L, KCND3, KCNE3, KCNJ8, PKP2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, TRPM4
  • Confirmation of a clinical diagnosis in Risk assessment of asymptomatic family members of a proband with Brugada syndrome
  • Recurrence risk calculation
  • Differentiation of hereditary BrS from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

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

Billing

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

References

  1. Brugada R, Campuzano O, Brugada P, 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://
  2. Hedley et al. (2009) Human Mutation 30 (9):1256-66 (PMID: 19606473)
  3. Fowler et al. (2009) Current Opinion In Cardiology 24 (1):74-81 (PMID: 19102039)
  4. Antzelevitch et al. (2002) Circ. Res. 91 (12):1114-8 (PMID: 12480811)
  5. Benito et al. (2008) J. Am. Coll. Cardiol. 52 (19):1567-73 (PMID: 19007594)
  6. Giudicessi et al. (2011) Heart Rhythm 8 (7):1024-32 (PMID: 21349352)
  7. Crotti et al. (2012) Journal Of The American College Of Cardiology 60 (15):1410-8 (PMID: 22840528)
  8. Cerrone et al. (2014) Circulation 129 (10):1092-103 (PMID: 24352520)
  9. Bezzina et al. (2013) Nature Genetics 45 (9):1044-9 (PMID: 23872634)
  10. Riuró et al. (2013) Hum. Mutat. 34 (7):961-6 (PMID: 23559163)
  11. Liu et al. (2013) Plo S One 8 (1):e54131 (PMID: 23382873)
  12. Hu et al. (2014) International Journal Of Cardiology 171 (3):431-42 (PMID: 24439875)

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Other Cardiac Disorders

Chromosomal Microarray (GenomeDx®)

Forms and Documents

Test Details

  • Confirmation of clinical diagnosis
  • Differentiation between de novo and familial cases
  • Prenatal diagnosis in at-risk pregnancies
  • Whole-genome Array CGH

Ordering

910
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81228x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Marshall CR et al., Am J Hum Genet. 2008; 82:477-88
  2. Jacquemont ML et al., J Med Genet 2006; 43:843-849
  3. Charman et al. Eur J Hum Genet 2005 13(10):1121-30
  4. Carney et al., (2003) Pediatr Neurol 28:205-211
  5. Scala et al., Am J Med Genet A. 2007; 43:2275-2784
  6. Archer et al., J Med Genet 2006 May;43(5):451-6
  7. Van Esch H. et al. Am J Hum Genet 77,:442-453, 2005
  8. delGaudio et al., Genet Med 2006; 8(12):784-792
  9. Cohen D et al., J Aut Dev Dis 2005; 35:103-1116
  10. Archer HL et al. J. Med. Genet. 43: 729-734, 2006
  11. Tao J et al., Am. J. Hum. Genet. 75: 1149-1154, 2004
  12. Weaving LS et al., Am J Hum Genet (2004) 75:1079-1093
  13. American College of Medical Genetics: Paper Outlines Approach To Genetic Diagnosis. In: Medical New Today Feb7, 2008
  14. Mental health in the United States: Parental report of diagnosed autism in children aged 4-17 years-United States, 2003-2004. MMWR Morb Mortal Wkly Rep 2006; 55(17):481-486. 2006
  15. Fombonne E. J Clin Psychiatry 2005; 66 Suppl. 10:3-8
  16. Fombonne et al., J Autism Dev Disord. 1999;29(2):113-9
  17. Shaefer GB & Mendelssohn NJ. Genet Med 2008; 10:4-12
  18. Shaefer GB & Lutz RE. Genet Med 2006; 8:549-556
  19. Abrahams BS & Geschwind DH. Nat Genet Rev 2008; 9:341-355
  20. Herman et al. Genet Med 2007:9:258-274
  21. Butler et al., J Med Genet 2005:42:318-321
  22. Abdul-Rahman et al., Genet Med 2006:8:50-54
Hereditary Hemorrhagic Telangiectasia Panel

Forms and Documents

Test Details

ACVRL1, ENG, GDF2, RASA1, SMAD4
  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at-risk for developing the disease
  • Recurrence risk assessment
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

697
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

References

  1. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM.
  2. Kjeldsen et al. (1999) J. Intern. Med. 245 (1):31-9 (PMID: 10095814)
  3. Marchuk et al. (1998) Am. J. Med. Genet. 76 (3):269-73 (PMID: 9508248)
  4. McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [Updated 2014 Jul 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: htt
  5. Shovlin et al. (2010) Blood Reviews 24 (6):203-19 (PMID: 20870325)
  6. Lesca et al. (2007) Genet. Med. 9 (1):14-22 (PMID: 17224686)
  7. Harrison et al. (2003) Journal Of Medical Genetics 40 (12):865-71 (PMID: 14684682)
  8. Wooderchak-Donahue et al. (2013) American Journal of Human Genetics 93 (3):530-7 (PMID: 23972370)
  9. McDonald et al. (2015) Front Genet 6:1 (PMID: 25674101)
  10. Gallione et al. (2006) Journal Of Medical Genetics 43 (10):793-7 (PMID: 16613914)
  11. Gallione et al. (2004) Lancet 363 (9412):852-9 (PMID: 15031030)
  12. Bayrak-Toydemir P, Stevenson D. RASA1-Related Disorders. 2011 Feb 22 [Updated 2013 Dec 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://ww
  13. Hernandez et al. (2015) Hum Genome Var 2 :15040 (PMID: 27081547)
  14. Lesca et al. (2006) Human Mutation 27 (6):598 (PMID: 16705692)
  15. Letteboer et al. (2005) Human Genetics 116 (1-2):8-16 (PMID: 1557393)
  16. Brusgaard et al. (2004) Clin. Genet. 66 (6):556-61 (PMID: 15521985)
  17. Abdalla et al. (2005) Human Mutation 25 (3):320-1 (PMID: 15712271)
  18. Schulte et al. (2005) Human Mutation 25 (6):595 (PMID: 15880681)
  19. Prigoda et al. (2006) Journal Of Medical Genetics 43 (9):722-8 (PMID: 16690726)
  20. Bossler et al. (2006) Human Mutation 27 (7):667-75 (PMID: 16752392)
  21. McDonald et al. (2011) Clinical Genetics 79 (4):335-44 (PMID: 21158752)
  22. Richards-Yutz et al. (2010) Hum. Genet. 128 (1):61-77 (PMID: 20414677)
  23. Revencu et al. (2008) Human Mutation 29 (7):959-65 (PMID: 18446851)
Pulmonary Arterial Hypertension Panel

Forms and Documents

Test Details

ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, GDF2, SMAD9
  • Confirmation of a clinical diagnosis in symptomatic individuals
  • Identification of individuals at­?risk for developing the disease
  • Recurrence risk assessment
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

696
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

References

  1. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM.
  2. Loyd JE, Phillips JA III. Heritable Pulmonary Arterial Hypertension. 2002 Jul 18 [Updated 2012 Dec 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available fro
  3. Loyd et al. (1995) American Journal Of Respiratory And Critical Care Medicine 152 (1):93-7 (PMID: 7599869)
  4. Sztrymf et al. (2005) Revue Des Maladies Respiratoires 22 (5 Pt 1):796-805 (PMID: 16272982)
  5. Harrison et al. (2003) Journal Of Medical Genetics 40 (12):865-71 (PMID: 14684682)
  6. Girerd et al. (2010) Am. J. Respir. Crit. Care Med. 181 (8):851-61 (PMID: 20056902)
  7. Austin et al. (2012) Circ Cardiovasc Genet 5 (3):336-43 (PMID: 22474227)
  8. Nasim et al. (2011) Human Mutation 32 (12):1385-9 (PMID: 21898662)
  9. O'Callaghan et al. (2012) European Respiratory Review : An Official Journal Of The European Respiratory Society 21 (125):218-22 (PMID: 22941886).
  10. Rich et al. (1987) Ann. Intern. Med. 107 (2):216-23 (PMID: 3605900).
  11. Austin et al. (2009) The European Respiratory Journal 34 (5):1093-9 (PMID: 19357154)
  12. Eyries et al. (2014) Nat. Genet. 46 (1):65-9 (PMID: 24292273)
  13. Best et al. (2014) Chest 145 (2):231-6 (PMID: 24135949)
  14. Tenorio et al. (2015) Clin. Genet. 88 (6):579-83 (PMID: 25512148
  15. Ma et al. (2015) Appl Clin Genet 8 :181-8 (PMID: 26300654)
  16. Wang et al. (2016) BMC Pulm Med 16 (1):17 (PMID: 26801773)
  17. Fan et al. Int J Respir Pulm Med 2015, 2:4
  18. Newman et al. (2001) N. Engl. J. Med. 345 (5):319-24 (PMID: 11484688)
  19. Cogan et al. (2006) American Journal Of Respiratory And Critical Care Medicine 174 (5):590-8 (PMID: 16728714)
  20. Aldred et al. (2006) Hum. Mutat. 27 (2):212-3 (PMID: 16429403)
  21. Machado et al. (2001) American Journal Of Human Genetics 68 (1):92-102 (PMID: 11115378)
  22. McDonald et al. (2011) Clinical Genetics 79 (4):335-44 (PMID: 21158752)
  23. Koehler et al. (2004) Journal Of Medical Genetics 41 (12):e127 (PMID: 15591269)
  24. Thomson et al. (2000) Journal Of Medical Genetics 37 (10):741-5 (PMID: 11015450)
  25. Fujiwara et al. (2008) Circ. J. 72 (1):127-33 (PMID: 18159113)
  26. Cogan et al. (2005) Genet. Med. 7 (3):169-74 (PMID: 15775752)
Noonan and RASopathies Panel

Forms and Documents

Test Details

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1
  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Recurrence risk
  • Next-Gen Sequencing

Ordering

534
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81442x1
Yes
Yes
  • 759.8 Other specified anomalies
  • 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
* For price inquiries please email zebras@genedx.com

References

  1. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  2. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  3. Schubbert et al., Nature Genetics 38:331-336, 2006
  4. Carta C et al. Am J Hum Genet 79:129-135, 2006
  5. Roberts et al. Nat Genet 39:70-4, 2007
  6. Tartaglia et al. Nat Genet. 39:75-9, 2007
  7. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  8. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  9. Rodriguez- Viciana, et al. Science 311:1287-90, 2006
  10. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  11. Narumi et al. Am J Med Genet, 143:799-809, 2007
  12. Aoki Y et al. Nat Genet. 37:1038-40, 2005
  13. Costello JM. Am J Med Genet. 62:199-201, 1996
  14. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  15. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
  16. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  17. Kerr B et al. J Med Genet. 43:401-5, 2006
  18. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  19. White SM. Am J Med Genet A. 136:128-35, 2005
  20. Cordeddu Nat Genet 41:1022-1026, 2009
  21. Clayton-Smith et al. (2011) Am J Hum Genet 89(5):675-681
  22. Campeau et al. (2012) Am J Hum Genet 90:282-289
  23. Simpson et al. (2012) Am J Hum Genet 90:290-294
ELN Gene Sequencing

Forms and Documents

Test Details

ELN
  • Confirmation of a clinical diagnosis
  • Presymptomatic testing to identify individuals at risk for SVAS
  • Targeted testing of family members for a known familial mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

401
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 315.3 Developmental speech or language disorder
  • 759.8 Other specified anomalies
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Duba, H-C et al., Eur J Hum Genet (2002) 10, 351-361
  2. Graul-Neumann, LM et al., Am J Med Genet A. (2008) Apr 15;146A(8):977-983.
  3. Metcalfe, K et al., Eur J Hum Genet(2000); 8: 955-963.
  4. Tassabehji M et al., Hum Mol Genet (1998);7:1021–1028.
  5. Urban, Z et al., J Invest Dermatol (2005);124:1193–1199.
  6. Zhang, MC et al., J Biol Chem. (1999); 274: 981–986.
  7. Morris & Mervis, Hum Genet (2000) 1:461-484.
TTR Gene Sequencing

Forms and Documents

Test Details

TTR
  • Confirmation of a clinical diagnosis
  • Differentiation between cardiac amyloidosis and other cardiomypopathies
  • Carrier testing in at-risk family members
  • Prenatal diagnosis in families with a known pathogenic variant
  • Capillary Sequencing

Ordering

363
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81404x1
No
Yes
  • 277.3 Amyloidosis
  • 425.7 Nutritional and metabolic cardiomyopathy; Code first underlying disease, as: amyloidosis (277.30-277.39), beriberi (265.0), cardiac glycogenosis (271.0), mucopolysaccharidosis (277.5), thyrotoxicosis (242.0-242.9)
  • 277.39 Other amyloidosis, Hereditary cardiac amyloidosi,s Inherited systemic amyloidosis, Neuropathic (Portuguese) (Swiss) amyloidosis, Secondary amyloidosis
* For price inquiries please email zebras@genedx.com

References

  1. Seikijima Y et al. Transthyretin amyloidosis, In: GeneReviews. Last Update: March 15, 2006. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tfap
  2. Hou et al. (2007) Transthyretin and familial amyloidotic polyneuropathy FEBS 274, 1637-50
  3. Jacobson DR et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in Black Americans. New Eng. J. Med. 336: 466-473, 1997
  4. Coelho T et al. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J. Med. Genet. 31: 293-299, 1994
  5. Holmgren G et al. Geographical distribution of TTR met-30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J. Med. Genet. 31: 351-354, 1994
  6. Ikeda S et al. Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. Europ. Neurol. 32: 308-313, 1992
  7. Holmgren G et al. Homozygosity for the transthyretin-met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin. Genet. 41: 39-41, 1992
  8. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
  9. Ando, Y. et al. (2005) Transthyretin-related Familial Amyloidotic Polyneuropathy Arch Neurol 62, 1057-62
  10. Saraiva, M.J.M. (2001) Transthyretin Mutations in Hyperthyroxinemia and Amyloid Disease Hum Mutat 17, 493-503
  11. Sekijima et al. (2005) The biological and chemical basis for tissue-selective amyloid disease Cell 121, 73-85
TBX5 Gene Sequencing

Forms and Documents

Test Details

TBX5
  • Confirmation of a clinical diagnosis
  • Identification of the genetic basis of observed cardiac/limb defects in affected individuals
  • Prenatal diagnosis - in families with an affected child and known mutation
  • Capillary Sequencing

Ordering

2361
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

References

  1. McDermott, D. et al., Pediatr Res. 58: 981-86, 2005
  2. Heinritz, W. et al., Heart 91: 383-384, 2005
  3. Brassington, A. et al., Am J Hum Genet. 73: 74-85, 2003
  4. Akrami, SM. et al. J Med Genet. 38:E44, 2001
  5. Fan, C. et al. J Med Genet. 40:e29, 2003
  6. Borozdin, W. et al. Hum Mutat. 27:975-976, 2006
JAG1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

JAG1
  • Confirmation of a clinical diagnosis
  • Development of appropriate evaluation and management plan
  • Evaluation of family members as possible donors for liver transplantation
  • Identification of mutation carriers with milder manifestations
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1004
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81407x1
Yes
Yes
  • 576.8 Other specified disorders of biliary tract Adhesions of bile duct [any], Atrophy of bile duct [any], Cyst of bile duct [any], Hypertrophy of bile duct [any], Stasis of bile duct [any], Ulcer of bile duct [any]
  • 745.2 Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
  • 571.9 Unspecified chronic liver disease without mention of alcohol
* For price inquiries please email zebras@genedx.com

References

  1. Warthen, DM. et al., Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate. Hum Mutat. 27: 436-443, 2006.
  2. Kamath, BM. et al., Consequences of JAG1 mutations. J Med Genet. 40: 891-895, 2003.

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Marfan/TAAD & Other Connective Tissue

HDCT Panel

Forms and Documents

Test Details

ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, CBS, CHST14, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J555
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81410x1, 81411x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Murphy-Ryan M et al. (2010) Genet Med 12(6):344-54 (PMID: 20467323)
  2. Alazami AM et al. (2016) Hum Genet 135(5):525-40 (PMID: 27023906)
  3. Bradley TJ et al. (2016) Can J Cardiol 32(1):86-99 (PMID: 26724513)
  4. Weerakkody et al. (2016) Genet Med [Epub ahead of print] (PMID: 27011056)
  5. Ziganshin et al. (2015) Ann Thorac Surg 100(5):1604-11 (PMID: 26188975)
  6. Milewicz DM, Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13 [Updated 2012 Jan 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  7. Guo et al. (2015) Am J Hum Genet 96 (1):170-7 (PMID: 25557781)
  8. Barbier et al. (2014) Am J Hum Genet 95(6):736-43 (PMID: 25434006)
  9. Callewaert B et al. Arterial Tortuosity Syndrome. 2014 Nov 13. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  10. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 2008 Feb 28 [updated 2013 Jul 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  11. Pepin MG et al. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [updated 2015 Nov 19] In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  12. Merla et al. (2012) Circ Cardiovasc Genet 5(6):692-6 (PMID: 23250899)
  13. Beighton P et al. (1998) Am J Med Genet 77(1):31-7 (PMID: 9557891)
  14. Doyle AJ et al. (2012) Nat Genet 44(11):1249-54 (PMID: 23023332)
  15. Sadiq MA, Vanderveen D. (2013) Semin Ophthalmol 28(5-6):313-20 (PMID: 24138040)
  16. Guo et al. (2007) Nat Genet 39(12):1488-93 (PMID: 17994018)
  17. Al-Hussain H et al. (2004) Am J Med Genet 124A(1):28-34 (PMID: 14679583)
  18. Acke FR et al. (2012) Orphanet J Rare Dis 7:84 (PMID: 23110709)
  19. Baumann et al. (2012) Am J Hum Genet 90(2):201-16 (PMID: 22265013)
  20. Chen MH, Walsh CA. FLNA-Related Periventricular Nodular Heterotopia. 2002 Oct 8 [updated 2015 Sep 17]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  21. Greally MT. Shprintzen-Goldberg Syndrome. 2006 Jan 13 [updated 2013 Jun 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  22. Picker JD, Levy HL. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. 2004 Jan 15 [updated 2014 Nov 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-201
FBN1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

FBN1
  • Confirmation of clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with TAAD
  • Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

918
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81408x1, 81479x1
Yes
Yes
  • 441.9 Aortic aneurysm of unspecified site without mention of rupture Aneurysm Dilatation of aorta, Hyaline necrosis of aorta
  • 441.5 Aortic aneurysm of unspecified site, ruptured Rupture of aorta NOS
  • 759.82 Marfan syndrome
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 512.8 Other spontaneous pneumothorax Pneumothorax
  • 754.81 Pectus excavatum Congenital funnel chest
  • 737.43 Scoliosis
  • 701.3 Striae atrophicae, Atrophic spots of skin, Atrophoderma maculatum, Atrophy blanche (of Milian), Degenerative colloid atrophy, Senile degenerative atrophy, Striae distensae
  • 379.32 Subluxation of lens
  • 441.00 Unspecified site
* For price inquiries please email zebras@genedx.com
Marfan/TAAD Panel

Forms and Documents

Test Details

ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
  • Confirmation of clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with TAAD
  • Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

883
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81410x1, 81411x1
Yes
Yes
  • 441.9 Aortic aneurysm of unspecified site without mention of rupture Aneurysm Dilatation of aorta, Hyaline necrosis of aorta
  • 441.5 Aortic aneurysm of unspecified site, ruptured Rupture of aorta NOS
  • 759.82 Marfan syndrome
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 512.8 Other spontaneous pneumothorax Pneumothorax
  • 754.81 Pectus excavatum Congenital funnel chest
  • 737.43 Scoliosis
  • 701.3 Striae atrophicae, Atrophic spots of skin, Atrophoderma maculatum, Atrophy blanche (of Milian), Degenerative colloid atrophy, Senile degenerative atrophy, Striae distensae
  • 379.32 Subluxation of lens
  • 441.00 Unspecified site
* For price inquiries please email zebras@genedx.com

References

  1. Milewicz DM, Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13 [Updated 2012 Jan 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015
  2. Pomianowski et al. (2013) Ann Cardiothorac Surg 2 (3): 271-9 (PMID: 23977594)
  3. De Paepe et al. (1996) American Journal Of Medical Genetics 62 (4): 417-26 (PMID: 8723076).
  4. Loeys et al. (2010) Journal Of Medical Genetics 47 (7): 476-85 (PMID: 20591885).
  5. Loeys et al. (2005) Nature Genetics 37 (3): 275-81 (PMID: 15731757).
  6. van de Laar et al. (2011) Nature Genetics 43 (2): 121-6 (PMID: 21217753).
  7. Lindsay et al. (2012) Nature Genetics 44 (8): 922-7 (PMID: 22772368).
  8. Boileau et al. (2012) Nature Genetics 44 (8): 916-21 (PMID: 22772371)
  9. Rienhoff et al. (2013) American Journal Of Medical Genetics. Part A 161A (8): 2040-6 (PMID: 23824657).
  10. Bertoli-Avella et al. (2015) Journal Of The American College of Cardiology 65 (13): 1324-36 (PMID: 25835445).
  11. Doyle et al. (2012) Nature Genetics 44 (11): 1249-54 (PMID: 23023332).
  12. Pepin MG et al. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [Updated 2015 Nov 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  13. Callewaert B et al. Arterial Tortuosity Syndrome. 2014 Nov 13. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  14. Godfrey M. Congenital Contractural Arachnodactyly. 2001 Jan 23 [Updated 2012 Feb 23]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015
  15. Lyons MJ. MED12-Related Disorders. 2008 Jun 23 [Updated 2013 Jun 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  16. Guo et al. (2007) Nature Genetics 39 (12): 1488-93 (PMID: 17994018)
  17. Guo et al. (2015) American Journal Of Human Genetics 96 (1): 170-7 (PMID: 25557781)
  18. Barbier et al. (2014) American Journal Of Human Genetics 95 (6): 736-43 (PMID: 25434006).
  19. Zhu et al. (2006) Nature Genetics 38 (3): 343-9 (PMID: 16444274).
  20. Wang et al. (2010) American Journal Of Human Genetics 87 (5): 701-7 (PMID: 21055718)
  21. Guo et al. (2013) American Journal Of Human Genetics 93 (2): 398-404 (PMID: 23910461).
  22. McKellar et al. (2007) The Journal Of Thoracic And Cardiovascular Surgery 143 (2): 290-6 (PMID: 17662764).
  23. Heald et al. (2015) American Journal Of Medical Genetics A 167 (8): 1758-62 (PMID: 25931195).
  24. Symoens et al. (2012) Human Mutation 33 (10): 1485-93 (PMID: 22696272).
Rest of Marfan/TAAD Sequencing & Del/Dup Panel

Forms and Documents

Test Details

ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN2, FLNA, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
  • Confirmation of clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with TAAD
  • Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

919
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

References

  1. Milewicz DM, Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13 [Updated 2012 Jan 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015
  2. Pomianowski et al. (2013) Ann Cardiothorac Surg 2 (3): 271-9 (PMID: 23977594)
  3. De Paepe et al. (1996) American Journal Of Medical Genetics 62 (4): 417-26 (PMID: 8723076).
  4. Loeys et al. (2010) Journal Of Medical Genetics 47 (7): 476-85 (PMID: 20591885).
  5. Loeys et al. (2005) Nature Genetics 37 (3): 275-81 (PMID: 15731757).
  6. van de Laar et al. (2011) Nature Genetics 43 (2): 121-6 (PMID: 21217753).
  7. Lindsay et al. (2012) Nature Genetics 44 (8): 922-7 (PMID: 22772368).
  8. Boileau et al. (2012) Nature Genetics 44 (8): 916-21 (PMID: 22772371)
  9. Rienhoff et al. (2013) American Journal Of Medical Genetics. Part A 161A (8): 2040-6 (PMID: 23824657).
  10. Bertoli-Avella et al. (2015) Journal Of The American College of Cardiology 65 (13): 1324-36 (PMID: 25835445).
  11. Doyle et al. (2012) Nature Genetics 44 (11): 1249-54 (PMID: 23023332).
  12. Pepin MG et al. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [Updated 2015 Nov 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  13. Callewaert B et al. Arterial Tortuosity Syndrome. 2014 Nov 13. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  14. Godfrey M. Congenital Contractural Arachnodactyly. 2001 Jan 23 [Updated 2012 Feb 23]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015
  15. Lyons MJ. MED12-Related Disorders. 2008 Jun 23 [Updated 2013 Jun 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  16. Guo et al. (2007) Nature Genetics 39 (12): 1488-93 (PMID: 17994018)
  17. Guo et al. (2015) American Journal Of Human Genetics 96 (1): 170-7 (PMID: 25557781)
  18. Barbier et al. (2014) American Journal Of Human Genetics 95 (6): 736-43 (PMID: 25434006).
  19. Zhu et al. (2006) Nature Genetics 38 (3): 343-9 (PMID: 16444274).
  20. Wang et al. (2010) American Journal Of Human Genetics 87 (5): 701-7 (PMID: 21055718)
  21. Guo et al. (2013) American Journal Of Human Genetics 93 (2): 398-404 (PMID: 23910461).
  22. McKellar et al. (2007) The Journal Of Thoracic And Cardiovascular Surgery 143 (2): 290-6 (PMID: 17662764).
  23. Heald et al. (2015) American Journal Of Medical Genetics A 167 (8): 1758-62 (PMID: 25931195).
  24. Symoens et al. (2012) Human Mutation 33 (10): 1485-93 (PMID: 22696272).

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Familial Hypercholesterolemia

Familial Hypercholesterolemia (FH) Panel

Forms and Documents

Test Details

APOB, LDLR, LDLRAP1, PCSK9
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with FH
  • Differentiation of FH from acquired (non-genetic) forms of hypercholesterolemia
  • Genetic counseling and recurrence risk assessment
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J556
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81401x1, 81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Youngblom E, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2. 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.gov/books/
  2. Nordestgaard et al. (2013) European Heart Journal 34 (45):3478-90a (PMID: 23956253)
  3. Hovingh et al. (2013) European Heart Journal 34 (13):962-71 (PMID: 23416791)
  4. Robinson, et al. (2013) Journal of Managed Care Pharmacy: JMCP 19 (2):139-49 (PMID: 23461430)
  5. Sniderman et al. (2014) Journal of the American College of Cardiology 63 (19):1935-47 (PMID: 24632267)
  6. Brautbar et al. (2015) Current Atherosclerosis Reports 17 (4):491 (PMID: 25712136)
  7. Pimstone et al. (1998) Arterioscler. Thromb. Vasc. Biol. 18 (2):309-15 (PMID: 9484998)
  8. Naoumova et al. (2005) Arterioscler. Thromb. Vasc. Biol. 25 (12):2654-60 (PMID: 16224054)
  9. Fahed et al. (2011) Nutr Metab (Lond) 8 (1):23 (PMID: 21513517)
  10. Cariou et al. (2011) Atherosclerosis 216 (2):258-65 (PMID: 21596380)
  11. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {606945}: {02/2014}: World Wide Web URL: http://omim.org/
  12. Heath et al. (2001) Atherosclerosis 154 (1):243-6 (PMID: 11137106)
  13. Lombardi et al. (1998) Hum. Mutat. Suppl 1 :S172-4 (PMID: 9452078)
  14. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {107730}: {12/2013}: World Wide Web URL: http://omim.org/
  15. Hopkins et al. (2011) J Clin Lipidol 5 (3 Suppl):S9-17 (PMID: 21600530)
  16. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {607786}: {07/2013}: World Wide Web URL: http://omim.org/
  17. Cameron et al. (2008) Journal Of Internal Medicine 263 (4):420-31 (PMID: 18266662)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {605747}: {03/2014}: World Wide Web URL: http://omim.org/
  19. Michaely et al. (2004) J. Biol. Chem. 279 (32):34023-31 (PMID: 15166224)
  20. Mishra et al. (2002) Proc. Natl. Acad. Sci. U.S.A. 99 (25):16099-104 (PMID: 12451172)
  21. Wilund et al. (2002) Hum. Mol. Genet. 11 (24):3019-30 (PMID: 12417523)
  22. DeMott et al. (2008) London: National Collaborating Centre for Primary Care and Royal College of General Practitioners

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

Custom Cardiac Panels

Custom Arrhythmia Panel

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

  • Exon Array CGH
  • 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

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; 199
  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.ni
  12. Ranebjærg 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 fr
  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://
  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:
Custom CPVT Panel

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
  • Exon Array CGH

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

References

  1. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM.
  2. 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
  3. Liu et al. Progress In Cardiovascular Diseases 51 (1):23-30 (PMID: 18634915)
  4. Priori et al. (2002) Circulation 106 (1):69-74 (PMID: 12093772)
  5. Tester et al. (2006) Heart Rhythm : The Official Journal Of The Heart Rhythm Society 3 (7):800-5 (PMID: 16818210)
  6. Nyegaard et al. (2012) American Journal of Human Genetics 91 (4):703-12 (PMID: 23040497)
  7. Marsman et al. (2014) J. Am. Coll. Cardiol. 63 (3):259-66 (PMID: 24076290)
  8. Makita et al. (2014) Circulation. Cardiovascular Genetics 7(4):466-74 (PMID: 24917665)
  9. Gomez-Hurtado et al. (2016) Circ Arrhythm Electrophysiol 9(8):e004161 (PMID: 27516456)
  10. Roux-Buisson et al. (2012) Human Molecular Genetics 21(12):2759-67 (PMID: 22422768)
  11. Rooryck et al. (2015) J. Cardiovasc. Electrophysiol. 26 (10):1146-50 (PMID: 26200674)
Custom ARVC Panel

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

  • Exon Array CGH
  • 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

References

  1. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
  2. 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,
  3. Nava A, Bauce B, Basso C, Muriago M, et al.. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2000; 36: 2226-33. (PubMed: 11127465)
  4. Diol. 2000; 36: 2226-33. (PubMed: 11127465) 4. McKenna WJ, Thiene G, Nava A, et al. Diagnosis of arrhythmogenic right ventricular dysplasia / cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Car
  5. Marcus FI et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the Task Force Criteria. Eur Heart J. 31:806-814, 2010 (PubMed: 20172912)
  6. Jacob K, Noorman M, Cox M, et al. Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy. Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart
Custom Brugada Syndrome (BrS) Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in Risk assessment of asymptomatic family members of a proband with Brugada syndrome
  • Recurrence risk calculation
  • Differentiation of hereditary BrS from other acquired or genetic heart conditions
  • Prenatal diagnosis in families with a known mutation

Customizable Cardiology Panel

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

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

Billing

81404x1, 81406x1, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Brugada R, Campuzano O, Brugada P, 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://
  2. Hedley et al. (2009) Human Mutation 30 (9):1256-66 (PMID: 19606473)
  3. Fowler et al. (2009) Current Opinion In Cardiology 24 (1):74-81 (PMID: 19102039)
  4. Antzelevitch et al. (2002) Circ. Res. 91 (12):1114-8 (PMID: 12480811)
  5. Benito et al. (2008) J. Am. Coll. Cardiol. 52 (19):1567-73 (PMID: 19007594)
  6. Giudicessi et al. (2011) Heart Rhythm 8 (7):1024-32 (PMID: 21349352)
  7. Crotti et al. (2012) Journal Of The American College Of Cardiology 60 (15):1410-8 (PMID: 22840528)
  8. Cerrone et al. (2014) Circulation 129 (10):1092-103 (PMID: 24352520)
  9. Bezzina et al. (2013) Nature Genetics 45 (9):1044-9 (PMID: 23872634)
  10. Riuró et al. (2013) Hum. Mutat. 34 (7):961-6 (PMID: 23559163)
  11. Liu et al. (2013) Plo S One 8 (1):e54131 (PMID: 23382873)
  12. Hu et al. (2014) International Journal Of Cardiology 171 (3):431-42 (PMID: 24439875)
Custom LQTS Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment for asymptomatic family members of a proband with LQTS
  • Differentiation of hereditary LQTS from acquired (non-genetic) causes of LQTS.
  • Prenatal diagnosis in families with a known pathogenic variant

Customizable Cardiology Panel

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

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

Billing

81401x1, 81404x1, 81406x2, 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Lehnart et al. (2007) Circulation 116 (20):2325-45 (PMID: 17998470)
  2. Vincent, et al. (1998) Annual Review Of Medicine 49 :263-74 (PMID: 9509262)
  3. Arnestad et al. (2007) Circulation 115 (3):361-7 (PMID: 17210839)
  4. Ackerman MJ et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Associat
  5. Eddy et al. (2008) Heart Rhythm : The Official Journal Of The Heart Rhythm Society 5 (9):1275-81 (PMID: 18774102)
  6. Tester et al. (2010) The American Journal Of Cardiology 106 (8):1124-8 (PMID: 20920651)
Custom SCA Arrhythmia Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

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

Customizable Cardiology Panel

  • Exon Array CGH
  • 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

References

  1. Prutkin et al. (2008) Prog Cardiovasc Dis 50(6):390-403 (PMID: 18474283)
  2. Haissaguerre et al. (2008) N Eng J Med. 358(19):2016-2023 ( PMID: 18463377)
  3. Tester and Ackerman (2009) Ann Rev Med. 60:69-84 (PMID: 18928334)
  4. Tester et al. (2012) Mayo Clinic Proceedings 87 (6):524-39 (PMID: 22677073)
  5. 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
  6. Brugada, Campuzano, Brugada, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon, Adam, Ardinger, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.n
  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; 199
  8. Hedley et al. (2009) Hum Mutation 30:1-11 (PMID: 19606473)
  9. Priori et al. (2002) Circulation 106: 69-74 (PMID: 12093772)
  10. Skinner et al. (2011) Heart Rhythm 8(3):412-419 (PMID: 21070882)
  11. Gladding et al. (2010) Heart Rhythm 7:481-486 (PMID: 20167303)
  12. Tester et al. (2007) JACC 49 (2):240-6 (PMID: 17222736)
Custom SQTS Panel

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment for asymptomatic family members of a proband with SQTS
  • Recurrence risk calculation
  • Prenatal diagnosis in families with a known mutation
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J551C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gussak et al. (2001) Cardiology 94:99-102 (PMID: 11173780)
  2. Gaita et al. (2003) Circulation 108:965-970 (PMID: 12925462)
  3. Scimpf et al. (2008) Curr Opin Cardiol 23:192-198 (PMID: 18382206)
  4. Crotti et al. (2010). Indian Pacing and Electrophysiology Journal 10(2):86-95 (PMID: 20126594)
  5. Antzelevitch et al. (2007) Circulation 115 (4):442-9 (PMID: 17224476)
Custom Cardiomyopathy Panel

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)|Buccal Swabs

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
Custom DCM/LVNC Panel

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)|Buccal Swabs

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)
Custom HCM Panel

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)|Buccal Swabs

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)
Custom Combined Cardiac Panel

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)|Buccal Swabs

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
Custom Familial Hypercholesterolemia (FH) Panel

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 diagnosed with FH
  • Differentiation of FH from acquired (non-genetic) forms of hypercholesterolemia
  • Genetic counseling and recurrence risk assessment

Customizable Cardiology Panel

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J556C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81401x1, 81405x1, 81406x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Youngblom E, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2. 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.gov/books/
  2. Nordestgaard et al. (2013) European Heart Journal 34 (45):3478-90a (PMID: 23956253)
  3. Hovingh et al. (2013) European Heart Journal 34 (13):962-71 (PMID: 23416791)
  4. Robinson, et al. (2013) Journal of Managed Care Pharmacy: JMCP 19 (2):139-49 (PMID: 23461430)
  5. Sniderman et al. (2014) Journal of the American College of Cardiology 63 (19):1935-47 (PMID: 24632267)
  6. Brautbar et al. (2015) Current Atherosclerosis Reports 17 (4):491 (PMID: 25712136)
  7. Pimstone et al. (1998) Arterioscler. Thromb. Vasc. Biol. 18 (2):309-15 (PMID: 9484998)
  8. Naoumova et al. (2005) Arterioscler. Thromb. Vasc. Biol. 25 (12):2654-60 (PMID: 16224054)
  9. Fahed et al. (2011) Nutr Metab (Lond) 8 (1):23 (PMID: 21513517)
  10. Cariou et al. (2011) Atherosclerosis 216 (2):258-65 (PMID: 21596380)
  11. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {606945}: {02/2014}: World Wide Web URL: http://omim.org/
  12. Heath et al. (2001) Atherosclerosis 154 (1):243-6 (PMID: 11137106)
  13. Lombardi et al. (1998) Hum. Mutat. Suppl 1 :S172-4 (PMID: 9452078)
  14. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {107730}: {12/2013}: World Wide Web URL: http://omim.org/
  15. Hopkins et al. (2011) J Clin Lipidol 5 (3 Suppl):S9-17 (PMID: 21600530)
  16. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {607786}: {07/2013}: World Wide Web URL: http://omim.org/
  17. Cameron et al. (2008) Journal Of Internal Medicine 263 (4):420-31 (PMID: 18266662)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {605747}: {03/2014}: World Wide Web URL: http://omim.org/
  19. Michaely et al. (2004) J. Biol. Chem. 279 (32):34023-31 (PMID: 15166224)
  20. Mishra et al. (2002) Proc. Natl. Acad. Sci. U.S.A. 99 (25):16099-104 (PMID: 12451172)
  21. Wilund et al. (2002) Hum. Mol. Genet. 11 (24):3019-30 (PMID: 12417523)
  22. DeMott et al. (2008) London: National Collaborating Centre for Primary Care and Royal College of General Practitioners
Custom Marfan/TAAD & Related Disorders Panel
Custom HDCT Panel

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 diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination

Customizable Cardiology Panel

  • ExonArray CGH
  • Next-Gen Sequencing

Ordering

J555C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81410x1, 81411x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Murphy-Ryan M et al. (2010) Genet Med 12(6):344-54 (PMID: 20467323)
  2. Alazami AM et al. (2016) Hum Genet 135(5):525-40 (PMID: 27023906)
  3. Bradley TJ et al. (2016) Can J Cardiol 32(1):86-99 (PMID: 26724513)
  4. Weerakkody et al. (2016) Genet Med [Epub ahead of print] (PMID: 27011056)
  5. Ziganshin et al. (2015) Ann Thorac Surg 100(5):1604-11 (PMID: 26188975)
  6. Milewicz DM, Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13 [Updated 2012 Jan 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  7. Guo et al. (2015) Am J Hum Genet 96 (1):170-7 (PMID: 25557781)
  8. Barbier et al. (2014) Am J Hum Genet 95(6):736-43 (PMID: 25434006)
  9. Callewaert B et al. Arterial Tortuosity Syndrome. 2014 Nov 13. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  10. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 2008 Feb 28 [updated 2013 Jul 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  11. Pepin MG et al. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [updated 2015 Nov 19] In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  12. Merla et al. (2012) Circ Cardiovasc Genet 5(6):692-6 (PMID: 23250899)
  13. Beighton P et al. (1998) Am J Med Genet 77(1):31-7 (PMID: 9557891)
  14. Doyle AJ et al. (2012) Nat Genet 44(11):1249-54 (PMID: 23023332)
  15. Sadiq MA, Vanderveen D. (2013) Semin Ophthalmol 28(5-6):313-20 (PMID: 24138040)
  16. Guo et al. (2007) Nat Genet 39(12):1488-93 (PMID: 17994018)
  17. Al-Hussain H et al. (2004) Am J Med Genet 124A(1):28-34 (PMID: 14679583)
  18. Acke FR et al. (2012) Orphanet J Rare Dis 7:84 (PMID: 23110709)
  19. Baumann et al. (2012) Am J Hum Genet 90(2):201-16 (PMID: 22265013)
  20. Chen MH, Walsh CA. FLNA-Related Periventricular Nodular Heterotopia. 2002 Oct 8 [updated 2015 Sep 17]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  21. Greally MT. Shprintzen-Goldberg Syndrome. 2006 Jan 13 [updated 2013 Jun 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  22. Picker JD, Levy HL. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. 2004 Jan 15 [updated 2014 Nov 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-201
Custom Cardiology Panel

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

GeneDx aims to offer clinically relevant and comprehensive test panels, which are carefully researched, based on peer-reviewed research publications, and are reviewed by thought leaders in the cardiology and genetics communities. Each test result is written and reviewed by our specialized team of board-certified genetic counselors, cardiologists, and geneticists. All of our cardiology testing options include full sequencing and deletion/duplication analysis of all included genes, except where noted on the test requisition form.

Please download our Family History Questionnaire to assist in determining if the patient’s personal or family history is suggestive of a hereditary cardiac disorder and if they are a candidate for genetics follow-up.

FAQ

Q: How is genetic testing for inherited cardiac disorders performed at GeneDx?


A:Once a specimen is received at GeneDx, it goes through the following steps:

  1. Next Generation Sequencing: Multiple genes offered in a test panel are analyzed simultaneously using a new technology developed for high-throughput sequencing (“next generation sequencing”) to achieve high sensitivity with high efficiency. This method is also flexible and permits adding new genes to the existing panel without delay or significant cost increase.
  2. Confirmation of Results by Dideoxy Sequencing: All mutations identified by next generation sequencing are confirmed by traditional dideoxy sequencing, or another appropriate method.
  3. Additional Studies to Evaluate Variants of Unknown Significance (VOUS): When indicated, the presence or absence of novel sequence variants in representative, ethnically-matched control populations is evaluated using either publicly available resources or targeted laboratory studies.
  4. Result Interpretation and Reporting: Results are analyzed and interpreted at minimum by a geneticist and a genetic counselor, and are then reported to the ordering physician.
  5. Experts Are Only a Phone Call or Email Away: At GeneDx, our technical services are matched by our expertise and customer support. Our growing staff includes more than 30 experts in molecular and clinical genetics, cardiology and genetic counseling, who are just a phone call or email away. Our team works together on each individual case to provide unequivocal test sensitivity, efficiency and expertise. Genetic counselors are available to answer your questions and help manage patient cases through the testing experience.

Q:What is the significance of follow-up testing for family members?


A:Identification of a disease-causing mutation in an affected individual allows for mutation-specific genetic testing of at-risk family members. This includes family members who are clinically asymptomatic and who may have normal cardiac evaluations. Knowing whether at-risk family members harbor the disease-causing mutation can provide information for subsequent medical management and treatment, risk-assessments and prenatal diagnosis in future pregnancies if desired.

For more information on carrier testing, please click here.

For more information on prenatal diagnosis, please click here

 

Q:What is the utility of genetic testing for such diseases?


A:There are several reasons an individual or family may be referred for genetic testing in cardiac disorders. Genetic testing in a clinically affected patient can clarify the diagnosis, assist in treatment decisions and stratify risk management of family members. Diagnostic genetic testing can also help in differential diagnosis. For example, genetic testing in patients with symptoms of HCM can differentiate hereditary HCM from heart disease due to other causes, such as “Athlete’s Heart” and from HCM associated with mutations in sarcomeric genes from phenocopies, such as Fabry disease and Amyloidosis. Mutation-specific testing assists in risk assessment of asymptomatic family members, and if desired, prenatal testing is available.

Q:What information could come from performing a genetic test for cardiac disorders?


A:The table below shows possible outcomes for an individual who opts for genetic testing::

Clinical Presentation
Genetic Testing Result
Patient should continue to be followed by a cardiologist.
Management
Recommendations for Family Members
+
Positive
True positive. Mutation identified is disease-causing.
Patient should continue to be followed by a cardiologist.
Testing of family members is recommended. Those with negative results are not at an increased risk for the disease.

 

+
Negative
Genetic testing does not rule out the disease.
Patient should continue to be followed by a cardiologist
Testing of family members not indicated, however, clinical follow up is recommended.

 

+
VOUS
Genetic testing at this time is uninformative.
Patient should continue to be followed by a cardiologist. Testing of additional family members is necessary.
If symptomatic family members are found to have the same variant, it is more likely that the variant is disease-causing. If symptom free family members have the same variant, it is more likely that the variant is benign.