Sudden Cardiac Arrest Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
2609 ABCC9 81479,81479 Order Options and Pricing
ACTN2 81479,81479
AKAP9 81479,81479
ANK2 81479,81479
CACNA1C 81479,81479
CACNB2 81406,81479
CALM1 81479,81479
CASQ2 81405,81479
CAV3 81404,81479
CSRP3 81479,81479
DES 81405,81479
DSC2 81406,81479
DSG2 81406,81479
DSP 81406,81479
EYA4 81479,81479
FBN1 81408,81479
FBN2 81479,81479
FKTN 81405,81479
GPD1L 81479,81479
JPH2 81479,81479
JUP 81406,81479
KCNA5 81479,81479
KCNE1 81479,81479
KCNE2 81479,81479
KCNE3 81479,81479
KCNH2 81406,81479
KCNJ2 81403,81479
KCNQ1 81406,81479
LMNA 81406,81479
MYBPC3 81407,81479
MYH6 81407,81479
MYH7 81407,81479
MYL2 81405,81479
MYL3 81405,81479
MYLK2 81479,81479
NEXN 81479,81479
NRAS 81479,81479
RYR2 81408,81479
SCN2B 81479,81479
SCN3B 81479,81479
SCN4B 81479,81479
SCN5A 81407,81479
SNTA1 81479,81479
TGFBR2 81405,81479
TNNC1 81405,81479
TNNI3 81405,81479
TNNT2 81406,81479
TPM1 81405,81479
TTR 81404,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
2609Genes x (49)81413 81403, 81404, 81405, 81406, 81407, 81408, 81479 $930 Order Options and Pricing

Pricing Comments

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. 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.

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

Sudden cardiac arrest (SCA) is a disorder in which the sudden cessation of cardiac activity leads to hemodynamic collapse. SCA happens quickly with little warning. Rapid treatment with a defibrillator can be lifesaving. SCA contributes significantly to morbidity and mortality in the general population (Mozaffarian et al. 2015). Most SCA cases (70-80%) are attributed to coronary heart disease (CHD); 10-15% are associated with nonischemic cardiomyopathy disease; approximately 5% are caused by arrhythmic disorders with no heart structural defects (Chugh et al. 2008). Identification of genetic factors associated with SCA contributes to the diagnosis, risk stratification and prevention (Refaat et al. 2015).

Genetics

Genetic studies in affected families have indicated that inherited cardiac disorders are associated with sudden cardiac arrest (Noseworthy et al. 2008). These disorders involve structural cardiac disease (hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and arrhythmogenic syndromes without structural abnormalities (such as long QT syndrome and Brugada syndrome) (Bezzina et al. 2015). Sudden cardiac arrest is a group of heterogenic disorders and can be autosomal dominant (AD), autosomal recessive (AR), or both. The majority of cardiac-related genes in this panel are associated with autosomal dominant disorders. The CASQ2 gene is associated with autosomal recessive cardiac-related disorders. The DSC2, DSP, JUP, KCNE1, KCNQ1, LMNA, TNNI3, and TTN genes are associated with autosomal dominant and recessive disorders (OMIM; Human Gene Mutation Database). See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants may be detected in 10~30% of cases, depending on clinical setting, family history and associated cardiac disorder phenotype (Hertz et al. 2015; McGorrian et al. 2013).

Gross deletions or duplications have been reported in CACNB2, CAV3, DES, DSP, GPD1L, KCNH2, KCNJ2, KCNQ1, 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 99.5% 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

All patients with symptoms suggestive of possible sudden cardiac arrest are candidates for this test.

Diseases

Name Inheritance OMIM ID
Amyloidogenic Transthyretin Amyloidosis AD 105210
Andersen Tawil Syndrome AD 170390
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 8 AD 607450
Atrial Fibrillation, Familial, 12 AD 614050
Atrial Fibrillation, Familial, 14 AD 615378
Atrial Fibrillation, Familial, 3 AD 607554
Atrial Fibrillation, Familial, 4 AD 611493
Atrial Fibrillation, Familial, 7 AD 612240
Atrial Fibrillation, Familial, 9 AD 613980
Brugada Syndrome 2 AD 611777
Brugada Syndrome 4 AD 611876
Brugada Syndrome 6 AD 613119
Brugada Syndrome 7 AD 613120
Cardiomyopathy Dilated With Woolly Hair And Keratoderma AR 605676
Cardiomyopathy, Familial Hypertrophic, 17 AD 613873
Cardiomyopathy, Familial Restrictive, 3 AD 612422
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 AD 604772
Catecholaminergic Polymorphic Ventricular Tachycardia, 4 AD 614916
Congenital Contractural Arachnodactyly AD 121050
Deafness, Autosomal Dominant 10 AD 601316
Dilated Cardiomyopathy 1A AD 115200
Dilated Cardiomyopathy 1Aa AD 612158
Dilated Cardiomyopathy 1CC AD 613122
Dilated Cardiomyopathy 1D AD 601494
Dilated Cardiomyopathy 1E AD 601154
Dilated Cardiomyopathy 1Ee AD 613252
Dilated Cardiomyopathy 1I AD 604765
Dilated Cardiomyopathy 1S AD 613426
Dilated Cardiomyopathy 1X AR 611615
Dilated Cardiomyopathy 1Y AD 611878
Dilated Cardiomyopathy 2A AR 611880
Familial Hypertrophic Cardiomyopathy 1 AD 192600
Familial Hypertrophic Cardiomyopathy 10 AD 608758
Familial Hypertrophic Cardiomyopathy 12 AD 612124
Familial Hypertrophic Cardiomyopathy 13 AD 613243
Familial Hypertrophic Cardiomyopathy 14 AD 613251
Familial Hypertrophic Cardiomyopathy 20 AD 613876
Familial Hypertrophic Cardiomyopathy 7 AD 613690
Familial Hypertrophic Cardiomyopathy 8 AD 608751
Hypertrichotic Osteochondrodysplasia AD 239850
Jervell And Lange-Nielsen Syndrome 2 AR 612347
Jervell And Lange-Nielson Syndrome AR 220400
Left ventricular noncompaction 10 AD 615396
Loeys-Dietz Syndrome 2 AD 610168
Long QT Syndrome 1 AD 192500
Long QT Syndrome 10 AD 611819
Long QT Syndrome 11 AD 611820
Long QT Syndrome 12 AD 612955
Long QT Syndrome 14 AD 616247
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
Marfan Syndrome AD 154700
Noonan Syndrome 6 AD 613224
Timothy Syndrome AD 601005
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 AR 611938

Related Test

Name
PGxome®

Citations

  • Bezzina C.R. et al. 2015. Circulation Research. 116: 1919-36. PubMed ID: 26044248
  • Chugh S.S. et al. 2008. Progress in Cardiovascular Diseases. 51: 213-28. PubMed ID: 19026856
  • Hertz C.L. et al. 2015. Europace. 17: 350-7. PubMed ID: 25345827
  • Human Gene Mutation Database (Bio-base).
  • McGorrian C. et al. 2013. Europace. 15: 1050-8. PubMed ID: 23382499
  • Mozaffarian D. et al. 2015. Circulation. 131: e29-322. PubMed ID: 25520374
  • Noseworthy P.A., Newton-Cheh C. 2008. Circulation. 118: 1854-63. PubMed ID: 18955676
  • Online Mendelian Inheritance in Man: http://www.omim.org/
  • Refaat M.M. et al. 2015. Current Cardiology Reports. 17: 606. PubMed ID: 26026997

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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