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Dilated Cardiomyopathy via the RBM20 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4221 RBM20 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4221RBM2081479 81479(x2) $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn 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

  • Chun-An Chen, PhD

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 woolly hair and myopathy (Møller et al. 2009). Sudden death occurs in ~30% of patients with DCM (Tamburro and Wilber 1992). 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).

Genetics

Up to 30% of DCM cases are familial (Grünig et al. 1998). In about half of these families, DCM is inherited in an autosomal dominant manner (AD-DCM). In rare families, the disease is transmitted with an autosomal recessive, X-linked or mitochondrial inheritance. The RBM20 gene is highly expressed in striated muscle, particularly the heart and is strongly associated with autosomal dominant DCM (Brauch et al. 2009; Li et al. 2010). The RBM20 gene encodes RNA-binding Motif Protein 20 (RBM20), which binds RNA and regulates splicing. Alternative splicing plays a major role in the adaptation of cardiac function exemplified by the isoform switch of titin. The RBM20 protein represses splicing to coordinate cardiac pre-mRNA processing (Maatz et al. 2014). Reduced activity of RBM20 results in altered isoforms of proteins (titin, LDB3, CACNA1C etc) that maintain sarcomeric structure and cardiac function. These changes eventually lead to cardiomyopathy and heart failure (Guo et al. 2012). So far, all causative variants reported in RBM20 are missense (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

RBM20-associated DCM occurs in ~3% of DCM patients (Refaat et al. 2012).

Testing Strategy

This test provides full coverage of all coding exons of the RBM20 gene 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 full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

All patients with symptoms suggestive of Dilated cardiomyopathy (DCM) are candidates for this test.

Gene

Official Gene Symbol OMIM ID
RBM20 613171
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Dilated Cardiomyopathy 1DD AD 613172

Related Test

Name
Comprehensive Cardiology Panel

Citations

  • Brauch KM. et al. 2009. Journal of the American College of Cardiology. 54: 930-41. PubMed ID: 19712804
  • Codd MB. et al. 1989. Circulation. 80: 564-72. PubMed ID: 2766509
  • Grünig E. et al. 1998. Journal of the American College of Cardiology. 31: 186-94. PubMed ID: 9426039
  • Guo W. et al. 2012. Nature Medicine. 18: 766-73. PubMed ID: 22466703
  • Human Gene Mutation Database (Bio-base).
  • Ikram H. et al. 1987. British heart journal. 57: 521-7. PubMed ID: 3620228
  • Li D. et al. 2010. Clinical and Translational Science. 3: 90-7. PubMed ID: 20590677
  • Møller DV. et al. 2009. European journal of human genetics : EJHG. 17: 1241-9. PubMed ID: 19293840
  • Maatz H. et al. 2014. The Journal of Clinical Investigation. 124: 3419-30. PubMed ID: 24960161
  • Refaat MM. et al. 2012. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 9: 390-6. PubMed ID: 22004663
  • Tamburro P., Wilber D. 1992. American heart journal. 124: 1035-45. PubMed ID: 1529877

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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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