Cardio Scout

by Admera Health

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Get a head start on your heart health with Cardio Scout, and learn your risk of developing significant genetic cardiovascular conditions. This extensive heart condition panel checks genes associated with conditions like cardiomyopathy and arrhythmia, which can lead to sudden cardiac arrest. Knowing your risk of developing these conditions can help you and your doctor keep your heart healthy.

Price includes $70.00 collected for an independent physician to review and determine whether the test is appropriate for you, and for genetic counseling services.


$254.99
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This includes a Helix DNA kit.


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SUMMARY

Know your heart

Good For: Anyone who wants to do more to understand their heart health

What to Expect: A result indicating whether any pathogenic or likely pathogenic variants were found in your DNA related to cardiac conditions that are covered by this test

Value: Know whether you are at elevated risk of heart disease resulting from certain cardiac conditions, and whether you should consult with a doctor or genetic counselor as your next step

What is sudden cardiac death?

Sudden cardiac death (SCD) is caused by a sudden stop in the heart beating (cardiac arrest). SCD can be secondary to an inherited cardiac condition that either causes a malfunction of the heart’s electrical system and/or of the structure of the heart muscles. Unfortunately, the first sign of these conditions can be sudden death. If a disease-causing variant is present in the DNA, it can increase the risk of a sudden death event in an otherwise healthy individual, including young athletes.

Who’s at risk?

SCD can affect those that appear to be healthy, including young athletes. A family history of SCD or other certain types of heart conditions can be a strong indicator for SCD, because cardiac disorders can be passed down from generation to generation.

What syndromes does Cardio Scout test for?

Arrhythmogenic right ventricular dysplasia (ARVD)

ARVD is a disease that affects the muscle of the right lower chamber of the heart. In this rare type of cardiomyopathy, the muscle tissue dies and is replaced with fatty tissue and scar tissue. This causes the heart to beat abnormally. Evaluation of the disease can be difficult for doctors because ARVD often looks like other cardiomyopathies.

Brugada syndrome

Brugada Syndrome is a genetic disease that can lead to a ventricular arrhythmia, abnormal rhythms in the bottom two chambers of the heart. Complications from this syndrome usually happen when a person is resting or sleeping. People with this disease have an abnormal heartbeat pattern.

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

CPVT is a type of abnormal heart rhythm, or arrhythmia. It occurs when the lower chamber of the heart beats too fast.

Dilated cardiomyopathy

Dilated Cardiomyopathy is a disease that affects the lower left chamber of the heart. The heart muscle becomes enlarged, making it more difficult for the heart to pump blood effectively.

Ehlers-Danlos syndrome (EDS), vascular type

EDS is a group of inherited diseases that affect the body's connective tissues (skin, joints, and blood vessel walls). Vascular EDS can lead to an increased risk of rupture in a blood vessel, intestine, uterine wall, or other hollow organs. Some signs and symptoms of vascular EDS include overly flexible joints, stretchy and fragile skin, thin translucent (see through) skin, small earlobes, and big eyes.

Fabry disease

Fabry disease is genetic disease caused by the lack of a necessary enzyme (alpha-galactosidase A). Common symptoms include difficulty breathing, chest pain, and fainting. Complications of Fabry Disease can include progressive kidney and heart damage, which can lead to heart failure or even sudden death.

Familial thoracic aortic aneurysm and dissection (FTAAD)

FTAAD is a rare disease that affects the large blood artery that moves blood from the heart to the rest of the body (aorta). Those with FTAAD can have a weakened or enlarged aorta. This can lead to a tear in the aorta (dissection), a potentially life-threatening complication.

Hypertrophic cardiomyopathy

Hypertrophic Cardiomyopathy is a disease that affects the heart muscle causing it to become abnormally thick. This thickening makes it more difficult for the heart to pump blood efficiently.

Left ventricular noncompaction (LVNC)

LVNC is a rare disease that occurs when the left lower chamber of the heart does not develop properly. This can lead to dangerous heart rhythms and often severe weakness of the heart muscle. Common symptoms include being out of breath, fatigue, ankle swelling, and not being able to exercise.

Loeys-Dietz syndrome (LDS)

LDS is a rare disease that weakens the body's connective tissues (skin, joints, and blood vessel walls). This weakening can cause small tears in the main artery of the body causing it to rupture. A rupture is a serious complication that can lead to death if it is not caught and treated early. Other symptoms of LDS include widely spaced eyes, cleft palate, weak bones, and thin translucent ("see through") skin.

Long QT syndrome

Long QT syndrome causes the heart to take longer to recharge after each beat. This can lead to an abnormal rhythm in the lower chamber of the heart (ventricular arrhythmia). Ventricular arrhythmias can cause sudden cardiac arrest.

Marfan syndrome

Marfan syndrome is a condition that affects the body's connective tissues (skin, joints, and blood vessel walls). People with Marfan tend to be tall and thin with long arms, legs, fingers, and toes. They can have eye lens dislocations. They may also have an enlargement of the large artery that carries blood to the rest of the body (aorta). This can lead to a tear in the aorta (dissection), a potentially life-threatening complication.

What will my results tell me?

Cardio Scout generates one of two possible outcomes:

No variant found: No variant was found in the cardiac genes tested for this product. If you do not already have a personal or family history of a cardiac condition, you have the same chance to develop the cardiac condition and heart disease as the general population. If you do have a personal or family history of a cardiac condition, you may want to consult with your physician or a genetic counselor.

Pathogenic: Likely pathogenic and pathogenic variants have very strong and definitive scientific evidence linking them with disease respectively. The detection of this type of variant in a cardiac condition means you have a high risk for heart disease resulting from the cardiac condition. We recommend that you consult with your physician or a genetic counselor.

The science

Scientists have extensively studied patients with these cardiomyopathies and arrhythmias in order to identify the associated genes and/or gene variants. Detecting a pathogenic variant in one of these associated genes predisposes an individual to increased risk of developing heart disease resulting from the cardiac condition.

The conditions in this product are inherited in various ways, with autosomal dominant, autosomal recessive, and X-linked recessive inheritance patterns.

Autosomal dominant: You need to only inherit one copy of the variant, from either mom or dad, in order to be affected.
Autosomal recessive: You need to inherit two copies of the variant, one from mom and one from dad, to be affected.
X-linked recessive: A mode of inheritance in which the variant is found on the X chromosome. Females have two X chromosomes so, in order to be affected, they would need to inherit two copies of the variant. Males, on the other hand, only have one copy of the X chromosome and would need to inherit only one copy of the variant in order to be affected.

Impact

The cardiomyopathies and arrhythmias tested for in this product are mostly caused by genetic variants.

Limitations

  • This product does not look at all possible genes known to be associated with the cardiac conditions tested for in this product.
  • In the genes tested, this product can identify over 95% of pathogenic variants
  • A negative result from this test does not completely exclude the possibility of having the cardiac condition or developing heart disease.
  • This product does not examine coronary artery disease (which is the most common cause of heart attack) or high cholesterol which may be addressed by familial hypercholesterolemia testing.
  • This test is not intended as a diagnostic test for individuals with a personal or family history of inherited heart conditions.
  • Our understanding and interpretation of gene variants will develop as the science evolves.
  • Results from this product are not intended to be used without consultation by a healthcare provider.

How it works

Because this test screens for conditions that might have serious medical implications, Admera Health provides a physician to review your health history to ensure it’s right for you before testing.

No paperwork

Answer a few questions about your health history when placing your order online. It takes just a few minutes.

No additional cost

The review of your health history adds no additional cost to your test, and insurance isn’t required.
Order and provide your health history
Physician reviews your information
Helix sends a DNA kit to your home
Provide a saliva sample and get sequenced
Get an email when your results are ready

The Helix DNA kit

To capture the information stored in your DNA so it can be used for this product, we need to collect a small, one-time saliva sample from you. This kit has everything you need to provide that sample from the comfort of your own home, and you’ll never have to provide another.

  • A unique Kit ID you’ll use to register your kit

  • Saliva collection tube, cap, and printed instructions

  • A small bag and prepaid box to send your saliva sample to our lab

References

1. Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, Davis AM, Thompson T, Connell V, Wallace J, Naylor C, Crawford J, Love DR, Hallam L, White J, Lawrence C, Lynch M, Morgan N, James P, du Sart D, Puranik R, Langlois N, Vohra J, Winship I, Atherton J, McGaughran J, Skinner JR, Semsarian C. A Prospective Study of Sudden Cardiac Death among Children and Young Adults. N Engl J Med. 2016 Jun 23;374(25):2441-52.
2. Bezzina CR, Lahrouchi N, Priori SG. Genetics of sudden cardiac death. Circ Res. 2015 Jun 5;116(12):1919-36.
3. Yousuf O, Chrispin J, Tomaselli GF, Berger RD. Clinical management and prevention of sudden cardiac death. Circ Res. 2015 Jun 5;116(12):2020-40.
4. Maron BJ, Haas TS, Murphy CJ, Ahluwalia A, Rutten-Ramos S. Incidence and causes of sudden death in U.S. college athletes. J Am Coll Cardiol. 2014 Apr 29;63(16):1636-43
5. Mark E.Josephson. Sudden cardiac arrest. Indian Heart J. 2014 Jan; 66(Suppl 1): S2–S3.

About Admera Health

Admera Health is a CLIA-certified and CAP-accredited advanced molecular diagnostics company focused on personalized medicine and digital health. It’s Admera’s mission to deliver transformative, valuable solutions for patients, physicians, and clinical researchers. Admera Health is committed to improving the health and well-being of the global community through the direct delivery of personalized, medically actionable results.

Have a question about this product?
clientcare@admerahealth.com

About Helix

Helix empowers everyone to explore what makes them unique—their DNA.

From health and wellness insights to family planning and ancestry information, Helix’s growing list of partners can tap into your genetic profile to provide relevant insights for today, tomorrow and years to come.

Have a question about ordering or sequencing? support@helix.com

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Questions

  • What genes does this product check?

    There are 29 genes checked by Cardio Scout: ACTA2, ACTC1, CASQ2, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LMNA, MYBPC3, MYH11, MYH7, MYL2, MYL3, PKP2, PRKAG2, RYR2, SCN5A, SMAD3, TGFBR1, TGFBR2, TMEM43, TNNI3, TTN, TNNT2, and TPM1. This product does not check for all genes linked to the cardiac conditions tested for in this product. However, this product does check for copy number variants (CNVs), or large rearrangements.

  • Can I choose my own physician to approve testing?

    No. When you order Cardio Scout, you answer relevant health history questions. Helix will share your contact information and health history with Admera Health so a physician from an independent provider network can review and make sure this product is right for you. This process helps make sure you get access to these insights quickly and efficiently through a provider that is familiar with this type of testing. You can always share your results with your healthcare providers.

  • Do I need access to my medical records to answer the health history questions?

    While it might help to have your records handy, it’s definitely not required. It’s okay to answer the health history questions from memory to the best of your ability.

  • Can I use my health insurance benefits to purchase this product?

    Unfortunately, no. This is an at-home test that doesn’t require an office visit, and we cannot currently accept payment from insurance providers.

  • Will someone be available to help me understand my results?

    While your results will be delivered to you in an easy-to-understand format, Admera Health knows that you may have questions. That’s why Admera makes available, through its physician network, experts who can help you understand what your results mean for you and your family. We also encourage you to share your results with your physician if you have any specific questions or concerns.

  • Do I have to get sequenced to use this product?

    Yes. In order to use Cardio Scout, you need to be sequenced by Helix. To ensure the quality and accuracy of the genetic information used for this service, products in the Helix marketplace do not accept genetic data from outside sources.

  • How does Helix provide my DNA information to Admera Health? Is it shared with anyone else?

    Your DNA information is stored securely by Helix. When sequencing is complete, Helix only sends the relevant DNA information needed by Admera Health to generate your results. We do not share your DNA information with anyone without your permission. We always maintain the highest standards when it comes to the security and privacy of your DNA information.

  • How do I learn more about how Admera Health uses my information?

    You can find learn more in the Admera Health Privacy Policy, Terms of Service, and Product Consent.

  • How do I view my results?

    Admera Health will send you an email when your results are ready to be viewed online.

  • What can I learn from the Cardio Scout test?

    You can learn if you have a genetic mutation that is known to be associated with, or the cause of, an inherited from of heart disease. These diseases include some types of arrhythmias and cardiomyopathies, aortic vascular disease, all of which can lead to sudden cardiac death. If a mutation is present, a health care provided can guide you through what the most appropriate treatment options are.

  • What are the limitations of Cardio Scout?

    This product is not intended as a diagnostic test for individuals with a personal or family history of inherited heart conditions. It does not examine coronary artery disease (which is the most common cause of heart attack) or high cholesterol which may be addressed by familial hypercholesterolemia testing. This test is not meant to replace a medical professional and is only providing a risk assessment for associated diseases. The Cardio Scout test gives you insights about your risks for some health outcomes. It cannot tell you for certain what your health is now or in the future.

  • What diseases does the Sudden Cardio Scout test provide a risk assessment for?

    ● Arrhythmogenic right ventricular dysplasia
    ● Brugada syndrome
    ● Catecholaminergic polymorphic ventricular tachycardia
    ● Dilated cardiomyopathy
    ● Aortopathy: Familial thoracic aortic aneurysm, vascular EDS, Loeys-Dietz, Marfan syndrome
    ● Hypertrophic cardiomyopathy
    ● Long QT syndrome

  • I'm already a Helix customer. Will I need to submit another sample in order to use this product?

    Most current Helix customers will not need to submit another sample in order to use Cardio Scout, but in some cases, we may require a new sample. In this situation, Helix will send a new saliva collection kit to you at no charge. Click here to learn more.