Dilated Cardiomyopathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
1339 ABCC9 81479,81479 Order Options and Pricing
ACTC1 81405,81479
ACTN2 81479,81479
ALMS1 81479,81479
ANKRD1 81405,81479
BAG3 81479,81479
CAV3 81404,81479
CRYAB 81479,81479
CSRP3 81479,81479
DES 81405,81479
DMD 81408,81161
DOLK 81479,81479
DSC2 81406,81479
DSG2 81406,81479
DSP 81406,81479
EMD 81405,81404
EYA4 81479,81479
FHL2 81479,81479
FKTN 81405,81479
FLNC 81479,81479
GATAD1 81479,81479
ILK 81479,81479
LAMA4 81479,81479
LAMP2 81405,81479
LDB3 81406,81479
LMNA 81406,81479
MIB1 81479,81479
MYBPC3 81407,81479
MYH6 81407,81479
MYH7 81407,81479
MYPN 81479,81479
NEBL 81479,81479
NEXN 81479,81479
NKX2-5 81479,81479
PDLIM3 81479,81479
PKP2 81406,81479
PLN 81403,81479
PPCS 81479,81479
PRDM16 81479,81479
RAF1 81406,81479
RBM20 81479,81479
RYR2 81408,81479
SCN5A 81407,81479
SGCD 81405,81479
TAFAZZIN 81406,81479
TCAP 81479,81479
TMPO 81479,81479
TNNC1 81405,81479
TNNI3 81405,81479
TNNT2 81406,81479
TPM1 81405,81479
TTN 81479,81479
TTR 81404,81479
TXNRD2 81479,81479
VCL 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
1339Genes x (55)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

Dilated cardiomyopathy (DCM) is a heterogeneous disease of the cardiac muscle. It is characterized by dilatation of the left, right, or both ventricles, systolic dysfunction, and diminished myocardial contractility. Symptoms include arrhythmia, dyspnea, chest pain, palpitation, fainting, and congestive heart failure (Ikram et al. 1987). Additional features may include conduction defects, woolly hair, and skeletal myopathy (Møller et al. 2009). Although symptoms of DCM usually begin in adulthood, an extensive clinical variability between individuals concerning the age of onset, penetrance, and extent of structural and functional abnormality has been documented. The prevalence of DCM has been estimated at ~1/2700 (Codd et al. 1989), but it could be 10-folder higher as proposed by another study (Hershberger et al. 2013). Up to 50% of DCM cases are classified as idiopathic and 30-50% of idiopathic DCM cases are inherited and termed Familial Dilated cardiomyopathy (FDCM) (Felker et al. 2000; de Gonzalo-Calvo et al. 2017). For additional information see GeneReviews (Hershberger and Morales 2013).

Genetics

DCM is genetically heterogeneous disease and most commonly inherited in an autosomal dominant manner. However, other modes of inheritance have been described, such as autosomal recessive (FKTN and GATAD1); X-linked recessive (DMD, EMD and TAZ), and X-linked dominant (LAMP2). The DCS2, DSP, LMNA, SCN5A, TCAP*, TNNI3 and TTN genes are associated with autosomal dominant and recessive disorders. (OMIM; Human Gene Mutation Database, *limited cases). See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

This panel can detect pathogenic variants in 35-40% of patients with Familial Dilated Cardiomyopathy (Hershberger et al. 2013; McNally et al. 2013).

Gross deletions or duplications not detectable by Sanger sequencing have been reported in CAV3, DES, DSP, NKX2-5, PKP2, 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 98.5% 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

Patients with symptoms and medical history suggestive of Dilated cardiomyopathy.

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 10 AD 610193
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 AD,AR 610476
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 AD 600996
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 5 AD 612794
Atrial Septal Defect With Atrioventricular Conduction Defects AD 108900
Brugada Syndrome 1 AD 601144
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, 2C AR 618189
Cardiomyopathy, Dilated, 3B XL 302045
Cardiomyopathy, familial restrictive 5 AD 617047
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 AD 604772
Congenital Disorder Of Glycosylation Type 1M AR 610768
Danon Disease XL 300257
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 1R AD 613424
Dilated Cardiomyopathy 1S AD 613426
Dilated Cardiomyopathy 1X AR 611615
Dilated Cardiomyopathy 1Y AD 611878
Dilated Cardiomyopathy 2A AR 611880
Emery-Dreifuss Muscular Dystrophy 1, X-Linked XL 310300
Fallot Tetralogy AD 187500
Familial Hypertrophic Cardiomyopathy 1 AD 192600
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 18 AD 613874
Familial Hypertrophic Cardiomyopathy 2 AD 115195
Familial Hypertrophic Cardiomyopathy 3 AD 115196
Familial Hypertrophic Cardiomyopathy 4 AD 115197
Familial Hypertrophic Cardiomyopathy 7 AD 613690
Familial Hypertrophic Cardiomyopathy 9 AD 613765
Glucocorticoid deficiency 5 AR 617825
Left ventricular noncompaction 10 AD 615396
Left Ventricular Noncompaction 7 AD 615092
Left Ventricular Noncompaction 8 AD 615373
Limb-Girdle Muscular Dystrophy, Type 2G AR 601954
Noonan Syndrome 5 AD 611553
Ventricular Septal Defect 3 AD 614432

Related Test

Name
PGxome®

Citations

  • Codd M.B. et al. 1989. Circulation. 80: 564-72. PubMed ID: 2766509
  • de Gonzalo-Calvo D. et al. 2017. International Journal of Cardiology. 228: 870-80. PubMed ID: 27889554
  • Felker G.M. et al. 2000. The New England Journal of Medicine. 342: 1077-84. PubMed ID: 10760308
  • 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
  • Human Gene Mutation Database (Bio-base).
  • Ikram H. et al. 1987. British heart journal. 57: 521-7. PubMed ID: 3620228
  • McNally E.M. et al. 2013. The Journal of Clinical Investigation. 123: 19-26. PubMed ID: 23281406
  • Møller D.V. et al. 2009. European Journal of Human Genetics. 17: 1241-9. PubMed ID: 19293840
  • Online Mendelian Inheritance in Man: http://www.omim.org/

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

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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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