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Dilated Cardiomyopathy via the ANKRD1 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
3837 ANKRD1 81405 81405,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3837ANKRD181405 81405,81479 $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 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).

Genetics

Dilated Cardiomyopathy (DCM) is familial in 30%-50% of cases (de Gonzalo-Calvo et al. 2017). Pathogenic variants in ANKRD1 have been reported to be associated with Dilated Cardiomyopathy, and are inherited in an autosomal dominant pattern (limited cases) (Duboscq-Bidot et al. 2009; Moulik et al. 2009). Cardiac-specific stress-response protein (CARP) encoded by ANKRD1 belongs to the muscle ankyrin repeat protein (MARP) family. CARP interacts with N2A domain of titin and translocates into nucleus to regulate the transcription in response to a stretch as part of mechanical stretch-based signaling machinery in cardiac myocytes. Pathogenic variants in ANKRD1 alter the interaction between CARP and associated protein and impair the stretch based cellular pathway. CARP is up regulated in dilated cardiomyopathy in response to mechanical stress (Bogomolovas et al. 2015) The ANKRD1 gene contains 9 coding exons, encodes 319 amino acids and is located at 10q23.31. Most reported pathogenic variants in ANKRD1 are missense or nonsense (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in ANKRD1 were identified in ~2% of Dilated Cardiomyopathy cases (Moulik et al. 2009; Duboscq-Bidot et al. 2009).

Testing Strategy

This test provides full coverage of all coding exons of the ANKRD1 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

Patients with Dilated Cardiomyopathy.

Gene

Official Gene Symbol OMIM ID
ANKRD1 609599
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID

Related Tests

Name
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and Loeys-Dietz Syndrome via the TGFB3 Gene
Comprehensive Cardiology Panel

Citations

  • Bogomolovas J. et al. 2015. Biomed Research International. 2015: 273936. PubMed ID: 25961010
  • 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
  • Duboscq-Bidot L. et al. 2009. European Heart Journal. 30: 2128-36. PubMed ID: 19525294
  • 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
  • Moulik M. et al. 2009. Journal of the American College of Cardiology. 54: 325-33. PubMed ID: 19608030
  • Møller D.V. et al. 2009. European Journal of Human Genetics. 17: 1241-9. PubMed ID: 19293840

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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