Cardiomyopathy

Cardiovascular Genomics

“HELPING CLIENTS MAKE HEART HEALTHY DECICIONS”

The leading cause of death in the United States is due to heart disease. The American Heart Association states that inheriting a mutation from a parent may substantially increase the risk of getting that disease with most genetic cardiovascular diseases. MicroGen Health provides a cardiovascular genomic testing panel that can present clues on genetic factors likely to contribute to disorders like cardiomyopathies, arrhythmic patterns, and thoracic aortic aneurysms and dissections to combat this possible prognosis.

Our experts and trained technicians are here to offer a timely and specific diagnosis of heritable cardiovascular disorder information to our clients and their primary care physicians. This empowers medical staff to come to more precise conclusions and helps to prevent sudden cardiac arrests that could result in death. Our goal is to create a roadmap leading to a better prognosis using the modern proactive treatments managed by our client’s physicians.

Family members with the most definitive and severe phenotype histories must be tested first to take full advantage of this diagnostic testing. Once a genetic variant is identified, the immediate family should consider testing and counseling. Asymptomatic individuals and at-risk family members can also be identified through this test, expanding its horizons in saving multiple family members through cascade screening. The best way to fight heart disease is to discover any underlying risks as early as possible for preventative treatments.

Genes

Cardiovascular genomics panel covers 91 genes

Hypertrophic cardiomyopathy

19 genes
  • ACTC1

  • ACTN2

  • CAV3

  • CSRP3

  • MYBPC3

  • MYH6

  • MYH7

  • MYL2

  • MYL3

  • MYLK2

  • MYOZ2

  • NEXN

  • PLN

  • TCAP

  • TNNC1

  • TNNI3

  • TNNT2

  • TPM1

  • TTN

Dilated cardiomyopathy

33 genes
  • ABCC9
  • ACTC1
  • ACTN2
  • ANKRD1
  • BAG3
  • CSRP3
  • CTF1
  • DES
  • DSG2
  • EYA4
  • LDB3
  • LMNA
  • MYBPC3
  • MYH6
  • MYH7
  • NEXN
  • PLN
  • PSEN1
  • PSEN2
  • RBM20
  • SCN5A
  • TNNC1
  • TNNT2
  • TPM1
  • TTN
  • VCL
  • FKTN
  • TNNI3
  • DMD
  • TAZ
  • SGCD
  • TCAP
  • TMPO

Arrhythmogenic right ventricular cardiomyopathy

8 genes
  • DSC2
  • DSG2
  • DSP
  • JUP
  • PKP2
  • RYR2
  • TGFB3
  • TMEM43

Brugada Syndrome

8 genes
  • CACNA1C
  • CACNB2
  • GPD1L
  • HCN4
  • KCNE3
  • SCN1B
  • SCN3B
  • SCN5A

Left ventricular noncompaction cardiomyopathy

7 genes
  • BARD1
  • DTNA
  • LDB3
  • MYBPC3
  • MYH7
  • TAZ
  • TNNT2

Thoracic aortic aneurysms and dissection

7 genes
  • ACTA2
  • FBN1
  • MYH11
  • MYLK
  • SMAD3
  • TGFBR1
  • TGFBR2

Familial atrial fibrillation

4 genes
  • ABCC9
  • GJA5
  • KCNA5
  • KCNE2

Congenital heart disease

3 genes
  • PIGL
  • ZIC3
  • JAG1

Hereditary angiopathy with nephropathy

1 gene
  • COL4A1

Supravalvular aortic stenosis

1 gene
  • ELN

Conditions

Comprehensive Panel

Brugada Syndrome

  • CACNA1C
  • CACNB2
  • GPD1L
  • HCN4
  • KCNE3
  • SCN1B
  • SCN3B
  • SCN5A

Cardiomyopathy,ARVC

  • DSC2
  • DSG2
  • DSP
  • JUP
  • PKP2
  • RYR2
  • TGFB3
  • TMEM43

Dilated Cardiomyopathy, Recessive

  • FKTN

Dilated Cardiomyopathy, X-Linked

  • DMD
  • TAZ

Familial Atrial Fibrillation

  • ABCC9
  • GJA5
  • KCNA5
  • KCNE2

Left Ventricular Noncompaction Cardiomyopathy

  • ACTC1
  • DTNA
  • LDB3
  • MYBPC3
  • MYH7
  • TAZ
  • TNNT2

Hereditary Angiopathy with Nephropathy, Aneurysms

  • COL4A1

Supravalvular Aortic Stenosis

  • ELN

Congenital Heart Defects 1, Nonsyndromic, 1

  • ZIC3

Congenital Heart Disease, Isolated Nonsyndromic

  • JAG1

Dilated Cardiomyopathy, Dominant

  • ABCC9
  • ACTC1
  • ACTN2
  • ANKRD1
  • BAG3
  • CSRP3
  • CTE1
  • DES
  • DSG2
  • FYA4
  • LDB3
  • LMNA
  • MYBPC3
  • MYH6
  • MYH7
  • NEXN
  • PLN
  • PSEN1
  • PSEN2
  • RBM20
  • SCN5A
  • SGCD
  • TCAP
  • TMPO
  • TNNC1
  • TNNT2
  • TPM1
  • TTN
  • VCL

Thoracic Aortic Aneurysms and Aortic Dissections

  • ACTA2
  • FBN1
  • MYH11
  • MYLK
  • SMAD3
  • TGFBR1
  • TGFBR2

Hypertrophic Cardiomyopathy

  • ACTC1
  • ACTN2
  • CAV3
  • CSRP3
  • MYBPC3
  • MYH6
  • MYH7
  • MYL2
  • MYL3
  • MYLK2
  • MYOZ2
  • NEXN
  • PLN
  • TCAP
  • TNNC1
  • TNN13
  • TNNT2
  • TPM1
  • TTN

When and Why to do Cardiovascular Genomics Testing?

The earlier clients can be tested, the better. If a client is concerned about the possibility of a future diagnosis, they should reach out to their primary care provider for guidance. That provider will most likely review certain personal history and background medical information to determine if testing would be appropriate. Some of the reasons for ordering this test include:

  • Confirmed or suspected diagnosis of inherited cardiovascular disease
  • Family history of cardiovascular disease within three generations
  • To differentiate heritable causes from acquired causes
  • To identify at-risk family members
  • To predict response to pharmacotherapies

Steps Involved in Cardiovascular Genomics Testing

Sample Collection and Transport

Primary physicians should first conduct a pre-test genetic counseling session with their patients before referring them for testing. This is so all the appropriate questions are answered about the potential benefits and limitations of the test. There will then be a trained laboratory technician that will collect a whole blood sample or buccal swab of the client into a specific testing container. That sample will then be sent to our labs in a safe, temperature-controlled setting.

Test Procedure

Genomic DNA will be carefully extracted from the collected sample by our expert technicians using the latest technology. Our lab will then assess the quality and quantity of the sample for genetic markers using generation sequencing. Our Bioinformatics tools will be implemented to understand the nature of any possible variants according to the guidelines set out by the American College of Medical Genetics (ACMG) and the Association for Molecular Pathology (AMP).

Test Report

The presence of pathogenic or likely pathogenic variants is indicated as a “positive” result. A positive result in a person affected may suggest an inherited mutation. A positive result in an asymptomatic individual suggests the possibility of potential high-risk, which could mean the need for either nutritional, therapeutic, or lifestyle interventions to reduce the risk of future diagnosis.

The presence of benign or likely benign variants is indicated as a “negative” result. This will inform the client’s physician on possible next steps, including evaluating other non-genetic causes for the specified phenotype. Post-test genetic counseling is suggested to help decide whether other members of the client’s family need to undergo this same genetic testing.

Customer Service

At MicroGen, we strive to provide only evidence-backed test results using experienced technicians and experts with the latest technology. We protect our client’s privacy according to industry standards and seek to have a professional customer interaction each and every time. If you would like to begin your test or have any other questions, please reach out to our team using our contact page. Thank you for considering MicroGen Health for your health care diagnostics.

  • Specimen requirements

    Buccal Swab

  • Turn around time:

    2-4 or 3-5 Weeks

  • CPT Codes:

    81161, 81405, 81406, 81407, 81439

    NOTE: The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

  • Coverage:

    99.0% of targeted genomic regions at 20X coverage or higher

Resources/References

Beckmann, B.M., Pfeufer, A., & Kääb, S. Inherited cardiac arrhythmias: diagnosis, treatment, and prevention. Dtsch Arztebl Int. 2011 Sep;108(37):623-33 (2011) Kimura, A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet. Jan;61(1):41-50 (2016)