Comprehensive Cardiac Arrhythmia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10423 ABCC9 81479,81479 Order Options and Pricing
AKAP9 81479,81479
ANK2 81479,81479
CACNA1C 81479,81479
CACNA2D1 81479,81479
CACNB2 81406,81479
CALM1 81479,81479
CALM2 81479,81479
CALM3 81479,81479
CASQ2 81405,81479
CAV3 81404,81479
DES 81405,81479
DSC2 81406,81479
DSG2 81406,81479
DSP 81406,81479
GJA5 81479,81479
GPD1L 81479,81479
HCN4 81479,81479
JUP 81406,81479
KCNA5 81479,81479
KCND3 81479,81479
KCNE1 81479,81479
KCNE2 81479,81479
KCNE3 81479,81479
KCNE5 81479,81479
KCNH2 81406,81479
KCNJ2 81403,81479
KCNJ5 81479,81479
KCNJ8 81479,81479
KCNK3 81479,81479
KCNQ1 81406,81479
LDB3 81406,81479
MYH6 81407,81479
MYL4 81479,81479
NKX2-5 81479,81479
NPPA 81479,81479
PKP2 81406,81479
PLN 81403,81479
PRKAG2 81406,81479
RANGRF 81479,81479
RYR2 81408,81479
SCN10A 81479,81479
SCN1B 81404,81479
SCN2B 81479,81479
SCN3B 81479,81479
SCN4B 81479,81479
SCN5A 81407,81479
SLMAP 81479,81479
SNTA1 81479,81479
TGFB3 81479,81479
TMEM43 81406,81479
TNNI3 81405,81479
TNNI3K 81479,81479
TRDN 81479,81479
TRPM4 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10423Genes x (55)81413 81403, 81404, 81405, 81406, 81407, 81408, 81479 $1030 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

CPT codes 81413 and 81414 can be used if at least 10 genes (including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR1, and SCN5A) are analyzed.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Cardiac arrhythmia is a group of conditions in which the heartbeat is irregular, too fast, or too slow. Some arrhythmia disorders are inherited, including Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy (ARVD/C), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Brugada syndrome, Long QT syndrome, and Short QT syndrome.

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) primarily affects the right ventricle. It is characterized by myocardial atrophy, fibrofatty replacement of the ventricular myocardium and inflammatory infiltrates (McNally et al. 2014). With disease progression and occasional left ventricle involvement, heart failure may result. ARVC/D is present in ~20% of young sudden cardiac death victims (Corrado et al. 1998). ARVC/D affects between 1/1000 and 1/5000 people worldwide with a higher prevalence in men compared to women (Corrado and Thiene 2006).

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is an inherited arrhythmogenic disorder characterized by life-threatening electrical instability induced by physical or emotional stress without any structural cardiac abnormalities (Napolitano et al. 2014). The electrical instability may degenerate into cardiac arrest and sudden death. CPVT typically onsets during childhood and often presents as syncope.

Long QT syndrome (LQTS) is a heritable channelopathy characterized by a prolonged cardiac repolarization that may trigger ventricular arrhythmias (torsade de pointes), recurrent syncopes, seizure, or sudden cardiac death (Cerrone et al. 2012). LQTS can manifest with syncope, and cardiac arrest that is commonly triggered by adrenergic stress, often precipitated by emotion or exercise. Roughly 10% to 15% of patients experience symptoms at rest or during the night (Schwartz et al. 2001).

Brugada syndrome (BrS) is a potentially life-threating arrhythmia disorder without structural abnormalities, characterized by dizziness, syncope, nocturnal agonal respiration and sudden death. The classic electrocardiographic findings associated with BrS include ST segment elevation in leads V1 to V3, right bundle branch block, first degree AV block, and intraventricular conduction delay. BrS is much more common in men than in women, and many people who have BrS are asymptomatic.

Short QT Syndrome (SQTS) is an inherited arrhythmia disorder which affects the movement of ions through channels within the cell membrane and is associated with marked shortening of QT intervals and sudden cardiac death in individuals with structurally normal hearts. Typical electrocardiogram (ECG) findings associated with SQTS include an abnormally short QT interval (usually <360 msec with a range of 220 to 360 msec), absence of the ST segment, and tall and peaked T waves in the precordial leads. The clinical presentation of SQTS is variable, and many patients are asymptomatic. Most patients present with one or more of the following symptoms: SCD, palpitations, syncope, and atrial fibrillation (Patel et al. 2010).

Genetics

Cardiac arrhythmia disorder is a heterogeneous disease usually inherited in an autosomal dominant (AD), but occasionally in an autosomal recessive (AR) manner with age- and gender-dependent penetrance. Most of the genes involved encode subunits of ion channels (sodium, potassium calcium channels) or the proteins that regulate them in cardiac contraction unit or conduction system. A wide variety of causative variants (missense, nonsense, splicing, small deletions and insertions) have been reported. Large deletions/duplications and complex genomic rearrangements have also been reported in a few genes (CACNA2D1, CACNB2, CAV, DES, DSP, GJA5, GPD1L, KCNA5, KCNH2, KCNJ2, KCNQ1, NKX2-5, PKP2, RYR2 and SCN5A) (Human Gene Mutation Database). See individual gene test descriptions for more information on molecular biology of gene products.

The following Table indicates chromosome location and mode of inheritance by gene.

Gene Inheritance CHR Location Gene Inheritance CHR Location
ABCC9 AD 12p12.1 AKAP9 AD 7q21.2
ANK2 AD 4q25-q26 CACNA1C AD 12p13.33
CACNA2D1 AD* 7q21.11 CACNB2 AD 10p12.33-p12.31
CALM1 AD 14q32.11 CALM2 AD 2p21
CALM3 AD* 19q13.32 CASQ2 AR 1p13.1
CAV3 AD/AR 3p25.3 DES1 AD/AR 2q35
DSC2 AD/AR 18q12.1 DSG2 AD 18q12.1
DSP AD/AR 6p24.3 GJA5 AD 1q21.2
GPD1L AD 3p22.3 HCN4 AD 15q24.1
JUP AD/AR 17q21.2 KCNA5 AD 12p13.32
KCND3 AD 1p13.2 KCNE1 AD 21q22.11-q22.12
KCNE5(KCNE1L) X-linked Xq23 KCNE2 AD 21q22.11
KCNE3 AD 11q13.4 KCNH2 AD 7q36.1
KCNJ2 AD 17q24.3 KCNJ5 AD 11q24.3
KCNJ8 AD* 12p12.1 KCNK3 AD 2p23.3
KCNQ1 AD/AR 11p15.5-p15.4 LDB3 AD 10q23.2
MYH6 AD 14q11.2 MYL4 AD 17q21.32
NKX2-5 AD/AR 5q35.1 NPPA AD 1p36.22
PKP2 AD 12p11.2 PLN AD 6q22.31
PRKAG2 AD 7q36.1 RANGRF AD* 17p13.1
RYR2 AD 1q43 SCN10A AD 3p22.2
SCN1B AD 19q13.12 SCN2B AD 11q23.3
SCN3B AD 11q24.1 SCN4B AD 11q23.3
SCN5A AD 3p22.2 SLMAP AD* 3p14.3
SNTA1 AD 20q11.21 TGFB3 AD 14q24.3
TNNI3 AD/AR 19q13.42 TNNI3K AD 1p31.1
TMEM43 AD 3p25.1 TRDN AR 6q22.31
TRPM4 AD 19q13.33

*Limited cases

Clinical Sensitivity - Sequencing with CNV PGxome

It is estimated that use of this NGS panel will allow detection of a pathogenic variant in: ~73% of patients with autosomal dominant or sporadic Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (McNally et al. 2014; Bhuiyan et al. 2009), ~52%-60% of Catecholaminergic Polymorphic Ventricular Tachycardia cases (Napolitano et al. 2014), ~ 80% of patients with Long QT syndrome (Splawski et al. 2000; Taggart et al 2007; Ackerman et al. 2011); 20%-35% of Brugada syndrome cases (Kapplinger et al 2010; Crotti et al. 2012); and 15%-20% of Short QT Syndrome cases (Schimpf et al. 2008).

Gross deletions or duplications not detectable by Sanger sequencing have been reported in CACNA2D1, CACNB2, CAV3, DES, DSP, GJA5, GPD1L, KCNA5, KCNH2, KCNJ2, KCNQ1, NKX2-5, PKP2, RYR2 and SCN5A as individual cases (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.7% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Patients with a strong clinical suspicion for inherited cardiac arrhythmia disorder, or unexplained sudden cardiac arrest/death.

Diseases

Name Inheritance OMIM ID
Andersen Tawil Syndrome AD 170390
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 AD 107970
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 AD 610193
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 AD,AR 610476
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 AD 611528
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 AD 600996
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 AD 604400
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 AD 607450
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 AD 609040
Atrial Fibrillation, Familial, 10 AD 614022
Atrial Fibrillation, Familial, 11 AD 614049
Atrial Fibrillation, Familial, 12 AD 614050
Atrial Fibrillation, Familial, 14 AD 615378
Atrial Fibrillation, Familial, 18 AD 617280
Atrial Fibrillation, Familial, 3 AD 607554
Atrial Fibrillation, Familial, 4 AD 611493
Atrial Fibrillation, Familial, 6 AD 612201
Atrial Fibrillation, Familial, 7 AD 612240
Atrial Fibrillation, Familial, 9 AD 613980
Atrial Septal Defect 3 AD 614089
Brugada Syndrome 1 AD 601144
Brugada Syndrome 2 AD 611777
Brugada Syndrome 3 AD 611875
Brugada Syndrome 4 AD 611876
Brugada Syndrome 5 AD 612838
Brugada Syndrome 6 AD 613119
Brugada Syndrome 7 AD 613120
Brugada Syndrome 8 AD 613123
Brugada Syndrome 9 AD 616399
Cardiac Conduction Disease with or without Dilated Cardiomyopathy AR 616117
Cardiomyopathy, Familial Restrictive, 1 AD 115210
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 AD 604772
Catecholaminergic Polymorphic Ventricular Tachycardia, 4 AD 614916
Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness AD 615441
Dilated Cardiomyopathy 1C AD 601493
Dilated Cardiomyopathy 1Ee AD 613252
Dilated Cardiomyopathy 1FF AD 613286
Dilated Cardiomyopathy 1P AD 609909
Dilated Cardiomyopathy 2A AD 611880
Familial Hypertrophic Cardiomyopathy 1 AD 192600
Familial Hypertrophic Cardiomyopathy 14 AD 613251
Familial Hypertrophic Cardiomyopathy 18 AD 613874
Familial Hypertrophic Cardiomyopathy 6 AD 600858
Familial Hypertrophic Cardiomyopathy 7 AD 613690
Glycogen Storage Disease Of Heart, Lethal Congenital AD 261740
Long QT Syndrome 1 AD 192500
Long QT Syndrome 10 AD 611819
Long QT Syndrome 11 AD 611820
Long QT Syndrome 12 AR 612955
Long QT Syndrome 13 AD 613485
Long QT Syndrome 14 AD 616247
Long QT Syndrome 15 AD 616249
Long QT Syndrome 2 AD 613688
Long QT Syndrome 3 AD 603830
Long QT Syndrome 4 AD 600919
Long QT Syndrome 5 AD 613695
Long QT Syndrome 6 AD 613693
Long QT Syndrome 9 AD 611818
Myofibrillar Myopathy, ZASP-Related AD 609452
Short QT Syndrome 2 AD 609621
Short QT Syndrome 3 AD 609622
Sick Sinus Syndrome 2, Autosomal Dominant AR 163800
Sick Sinus Syndrome 3, Susceptibility To AD 614090
Timothy Syndrome AD 601005
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 AD 611938
Wolff-Parkinson-White Pattern AD 194200

Related Test

Name
PGxome®

Citations

  • Ackerman M.J. et al. 2011. Europace. 13: 1077-109. PubMed ID: 21810866
  • Bhuiyan Z.A. et al. 2009. Circulation. Cardiovascular Genetics. 2: 418-27. PubMed ID: 20031616
  • Cerrone M. et al. 2012. Circulation. Cardiovascular genetics. 5: 581-90. PubMed ID: 23074337
  • Corrado D. et al. 1998. The New England Journal of Medicine. 339: 364-9. PubMed ID: 9691102
  • Corrado D., Thiene G. 2006. Circulation. 113: 1634-7. PubMed ID: 16585401
  • Crotti L. et al. 2012. Journal of the American College of Cardiology. 60: 1410-8. PubMed ID: 22840528
  • Human Gene Mutation Database (Bio-base).
  • Kapplinger J.D. et al. 2010. Heart Rhythm. 7: 33-46. PubMed ID: 20129283
  • McNally E. et al. 2014. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301310
  • Napolitano, C. et al. 2014. Catecholaminergic Polymorphic Ventricular Tachycardia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301466
  • Patel C. et al. 2010. Circulation. Arrhythmia and Electrophysiology. 3: 401-8. PubMed ID: 20716721
  • Schimpf R. et al. 2008. Current Opinion in Cardiology. 23:192-8. PubMed ID: 18382206
  • Schwartz P.J. et al. 2001. Circulation. 103: 89-95. PubMed ID: 11136691
  • Splawski I. et al. 2000. Circulation. 102: 1178-85. PubMed ID: 10973849
  • Taggart N.W. et al. 2007. Circulation. 115: 2613-20. PubMed ID: 17502575

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


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