Short QT Syndrome (SQTS)

Short QT syndrome (SQTS) is a heart disorder that affects the cardiac rhythm due to abnormal functioning of ion channel proteins. It is characterized by shortening of the QT interval on ECG and paroxysmal atrial and ventricular tachyarrhythmias (episodes of rapid heartbeats originating from the heart chambers). SQTS is associated with an increased risk of atrial fibrillation and sudden cardiac death, resulting from an accelerated cardiac atrial and ventricular repolarization. Fewer than 30 cases of short QT syndrome have been published since the condition was first described in 2000. The diagnosis of SQTS is based on clinical history, ECG findings and family history. The disorder may manifest in any stage of life, sometimes as early as infancy. Patients may have a history of atrial fibrillation, or less likely, syncope. SQTS may be present even in the absence of any clinical symptoms, and in some patients sudden cardiac death occurs without any preceding symptoms and without an identifiable cause at autopsy. Autosomal dominant SQTS may also underlie some cases of sudden infant death syndrome (SIDS).

Tests Available

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:

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

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)

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

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

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:

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)