Pan Cardiomyopathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
5263 ABCC9 81479,81479 Order Options and Pricing
ACTC1 81405,81479
ACTN2 81479,81479
ALMS1 81479,81479
ANKRD1 81405,81479
BAG3 81479,81479
BRAF 81406,81479
CALR3 81479,81479
CAV3 81404,81479
CAVIN4 81479,81479
CRYAB 81479,81479
CSRP3 81479,81479
DES 81405,81479
DMD 81408,81161
DOLK 81479,81479
DPP6 81479,81479
DSC2 81406,81479
DSG2 81406,81479
DSP 81406,81479
DTNA 81479,81479
EMD 81405,81404
EYA4 81479,81479
FHL1 81404,81479
FHL2 81479,81479
FKRP 81404,81479
FKTN 81405,81479
GAA 81406,81479
GATAD1 81479,81479
GLA 81405,81479
HCN4 81479,81479
HRAS 81404,81479
ILK 81479,81479
JPH2 81479,81479
JUP 81406,81479
KRAS 81405,81479
LAMA4 81479,81479
LAMP2 81405,81479
LDB3 81406,81479
LMNA 81406,81479
MAP2K1 81406,81479
MAP2K2 81406,81479
MIB1 81479,81479
MYBPC3 81407,81479
MYH6 81407,81479
MYH7 81407,81479
MYL2 81405,81479
MYL3 81405,81479
MYLK2 81479,81479
MYO6 81479,81479
MYOZ2 81479,81479
MYPN 81479,81479
NEXN 81479,81479
NKX2-5 81479,81479
NRAS 81479,81479
PDLIM3 81479,81479
PKP2 81406,81479
PLN 81403,81479
PRDM16 81479,81479
PRKAG2 81406,81479
PRKAR1A 81479,81479
PTPN11 81406,81479
RAF1 81406,81479
RBM20 81479,81479
RYR2 81408,81479
SCN5A 81407,81479
SCO2 81404,81479
SGCD 81405,81479
SGCG 81405,81404
SOS1 81406,81479
TAFAZZIN 81406,81479
TCAP 81479,81479
TGFB3 81479,81479
TGFBR2 81405,81479
TMEM43 81406,81479
TMPO 81479,81479
TNNC1 81405,81479
TNNI3 81405,81479
TNNT2 81406,81479
TPM1 81405,81479
TTN 81479,81479
TTR 81404,81479
VCL 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5263Genes x (82)81479 81161, 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.

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

Cardiomyopathies are disorders of the myocardium that manifest with various structural and functional changes of the heart. The expressivity of cardiomyopathy is highly variable and patients may present symptoms such as shortness of breath, fatigue, dizziness, fluttering, swelling in the ankles and legs, etc. (Maron et al. 2006; McNally et al. 2015). Clinical heterogeneity may be partially attributed to genetic heterogeneity of the cardiomyopathy disorders. The contribution of genetic factors varies by disorder subtypes and age of onset (Ackerman et al. 2011). Cardiomyopathies include a broad range of disorders, including Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, and Left Ventricular Non-Compaction Cardiomyopathy. Pan cardiomyopathy panel testing could help with differential diagnosis and prognostic stratification for patients with cardiomyopathies (Charron et al. 2010).

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).

Left Ventricular Noncompaction (LVNC) Cardiomyopathy is believed to be caused by an arrest in cardiac development during embryogenesis, resulting in a spongy, noncompacted appearance. The numerous trabeculations are most pronounced in the left ventricle (Oechslin et al. 2011; Hoedemaekers et al. 2010).

Dilated Cardiomyopathy (DCM) is a heterogeneous disease of the cardiac muscle characterized by dilatation of the left, right, or both ventricles, systolic dysfunction, and diminished myocardial contractility (Hershberger et al. 2013).

Hypertrophic Cardiomyopathy (HCM) is a primary disease of the cardiac muscle characterized by idiopathic hypertrophy of the left ventricle, although hypertrophy of the right ventricle may also occur. HCM is distinguished by extensive clinical variability between individuals, even within the same family (Cirino et al. 2014).

Genetics

Cardiomyopathy represents a group of genetically heterogeneous disorders with substantial genetic component. Genetic causes could contribute significantly in 60% of hypertrophic cardiomyopathy cases, and 30-50% of Dilated Cardiomyopathy cases (Teekakirikul et al. 2013). The inheritance mode of cardiomyopathy disorders include autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL). The majority of cardiac-related genes are associated with autosomal dominant disorders. The ALMS1, DOLK, FKRP, FKTN, GAA, GATAD1, LAMA2, SCO2, and SGCG are associated with autosomal recessive cardiac-related disorders. The DSC2, DSP, JUP, LMNA, SCN5A, TNNI3, and TTN genes are associated with autosomal dominant and recessive cardiac-related disorders. The FHL1, GLA, LAMP2, DMD, EMD, and TAZ genes are associated with X-linked recessive cardiac-related disorders, except for LAMP2, which is involved in X-linked dominant cardiac-related 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

The sensitivity of this panel varies based on the type of disease. This test is predicted to detect causative variants in ~60% of Hypertrophic Cardiomyopathy patients (Morita et al. 2008; Hershberger et al. 2009), up to 30% of adults with Left Ventricular Noncompaction (Ichida et al 2001; Vatta et al. 2003; Hermida-Prieto et al. 2004; Klaassen et al. 2008; Hoedemaekers et al. 2010), 30-40% of patients with familial Dilated Cardiomyopathy (Hershberger and Morales 2013), and ~73% of patients with autosomal dominant or sporadic Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (McNally et al. 2014; Bhuiyan et al. 2009).

Gross deletions or duplications have been reported in CAV3, DES, DSP, 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 98.8% 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 symptoms and medical history suggestive of cardiomyopathy disorders.

Diseases

Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 2 XL 302060
Alstrom Syndrome AR 203800
Amyloidogenic Transthyretin Amyloidosis AD 105210
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, 12 AD 614050
Atrial Septal Defect 3 AD 614089
Atrial Septal Defect 5 AD 612794
Atrial Septal Defect With Atrioventricular Conduction Defects AD 108900
Brugada Syndrome 1 AD 601144
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 AR 604377
Cardiofaciocutaneous syndrome 2 AD 615278
Cardiofaciocutaneous syndrome 3 AD 615279
Cardiofaciocutaneous syndrome 4 AD 615280
Cardiomyopathy Dilated With Woolly Hair And Keratoderma AR 605676
Cardiomyopathy, Dilated, 1Hh AD 613881
Cardiomyopathy, dilated, 1II AD 615184
Cardiomyopathy, dilated, 1JJ AD 615235
Cardiomyopathy, Dilated, 1KK AD 615248
Cardiomyopathy, Dilated, 2B AR 614672
Cardiomyopathy, Dilated, 3B XL 302045
Cardiomyopathy, Familial Hypertrophic, 17 AD 613873
Cardiomyopathy, Familial Hypertrophic, 19 AD 613875
Carney Complex, Type 1 AD 160980
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 AD 604772
Congenital Disorder Of Glycosylation Type 1M AR 610768
Costello Syndrome AD 218040
Danon Disease XL 300257
Deafness, Autosomal Dominant 22 AD 606346
Dilated Cardiomyopathy 1A AD 115200
Dilated Cardiomyopathy 1Aa AD 612158
Dilated Cardiomyopathy 1C AD 601493
Dilated Cardiomyopathy 1CC AD 613122
Dilated Cardiomyopathy 1DD AD 613172
Dilated Cardiomyopathy 1I AD 604765
Dilated Cardiomyopathy 1J AD 605362
Dilated Cardiomyopathy 1L AD 606685
Dilated Cardiomyopathy 1N AD 607487
Dilated Cardiomyopathy 1P AD 609909
Dilated Cardiomyopathy 1R AD 613424
Dilated Cardiomyopathy 1S AD 613426
Dilated Cardiomyopathy 1X AR 611615
Dilated Cardiomyopathy 1Y AD 611878
Dilated Cardiomyopathy 2A AD 611880
Emery-Dreifuss Muscular Dystrophy 1, X-Linked XL 310300
Emery-Dreifuss muscular dystrophy-6 XL 300696
Fabry's Disease XL 301500
Fallot Tetralogy AD 187500
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 15 AD 613255
Familial Hypertrophic Cardiomyopathy 16 AD 613838
Familial Hypertrophic Cardiomyopathy 18 AD 613874
Familial Hypertrophic Cardiomyopathy 2 AD 115195
Familial Hypertrophic Cardiomyopathy 4 AD 115197
Familial Hypertrophic Cardiomyopathy 6 AD 600858
Familial Hypertrophic Cardiomyopathy 7 AD 613690
Familial Hypertrophic Cardiomyopathy 8 AD 608751
Familial Hypertrophic Cardiomyopathy 9 AD 613765
Glycogen Storage Disease Type II AR 232300
Left Ventricular Noncompaction 1 AD 604169
Left ventricular noncompaction 10 AD 615396
Left Ventricular Noncompaction 7 AD 615092
Left Ventricular Noncompaction 8 AD 615373
Loeys-Dietz Syndrome 2 AD 610168
Long QT Syndrome 9 AD 611818
Muscular Dystrophy, Limb Girdle, Type 2C AR 253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 AR 607155
Myofibrillar Myopathy, BAG3-Related AD 612954
Myopathy, X-Linked, With Postural Muscle Atrophy XL 300696
Noonan Syndrome 1 AD 163950
Noonan Syndrome 4 AD 610733
Noonan Syndrome 5 AD 611553
Noonan Syndrome 6 AD 613224
Noonan Syndrome 7 AD 613706
Sick Sinus Syndrome 2, Autosomal Dominant AD 163800
Ventricular Fibrillation, Paroxysmal Familial, 2 AD 612956
Ventricular Septal Defect 3 AD 614432
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
  • Charron P. et al. 2010. European Heart Journal. 31: 2715-26. PubMed ID: 20823110
  • Cirino, A.L., Ho, C. 2014. Hypertrophic Cardiomyopathy Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301725
  • Hermida-Prieto M. et al. 2004. The American Journal of Cardiology. 94: 50-4. PubMed ID: 15219508
  • Hershberger R.E. et al. 2009. Circulation. Heart Failure. 2: 253-61. PubMed ID: 19808347
  • Hershberger R.E., Morales A. 2013. Dilated Cardiomyopathy Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301486
  • Hoedemaekers Y.M. et al. 2010. Circulation. Cardiovascular Genetics. 3: 232-9. PubMed ID: 20530761
  • Human Gene Mutation Database (Bio-base).
  • Ichida F. et al. 2001. Circulation. 103: 1256-63. PubMed ID: 11238270
  • Klaassen S. et al. 2008. Circulation. 117: 2893-901. PubMed ID: 18506004
  • Maron B.J. et al. 2006. Circulation. 113: 1807-16. PubMed ID: 16567565
  • 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
  • McNally E.M. et al. 2015. Cell Metabolism. 21: 174-82. PubMed ID: 25651172
  • Morita H. et al. 2008. The New England Journal of Medicine. 358: 1899-908. PubMed ID: 18403758
  • Oechslin E., Jenni R. 2011. European Heart Journal. 32: 1446-56. PubMed ID: 21285074
  • Online Mendelian Inheritance in Man: http://www.omim.org/
  • Teekakirikul P. et al. 2013. The Journal of Molecular Diagnostics. 15: 158-70. PubMed ID: 23274168
  • Vatta M. et al. 2003. Journal of the American College of Cardiology. 42: 2014-27. PubMed ID: 14662268

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

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