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Genetics 101

Monogenic Testing for Heart Disease 

  • What It Looks For:
    • Rare mutations in a single genethat cause inherited heart conditions.
  • Examples of Monogenic Heart Conditions:
  • Familial Hypercholesterolemia (FH):
  • Caused by mutations in genes like LDLR, APOB, or PCSK9. This leads to very high cholesterollevels from a young age, increasing the risk of early heart disease.
  • How It’s Used:
    • If someone has a family history of early heart diseaseor sudden cardiac death, monogenic testing can identify specific mutations. A positive test can guide early treatment (like cholesterol-lowering meds in FH) or lifestyle adjustments.

Polygenic Testing for Heart Disease 

  • What It Looks For:
  • Many genetic variants(often hundreds or thousands) that each have a small effect on heart disease risk.
  • Example of Polygenic Influence:
  • Common conditions like Coronary Artery Disease (CAD)are influenced by a mix of genes affecting cholesterol levels, blood pressure, inflammation, etc.
  • A Polygenic Risk Score (PRS)sums up the impact of these genes to estimate your overall risk for heart disease.
  • How It’s Used:
  • Even if you don’t have a family historyor monogenic mutations, polygenic testing can help predict your risk. It’s useful for guiding lifestyle choices (diet, exercise) and might influence how aggressively doctors manage your cholesterol or blood pressure.
Aspect  Monogenic Testing  Polygenic Testing 
Genes Involved  Single gene mutations (e.g., LDLR, MYH7)  Many genetic variants across the genome 
Risk Type  Rare but high risk for specific inherited heart diseases  Common risk factors contributing to overall heart disease 
Who Should Test?  People with family history of early heart disease or sudden cardiac death  Anyone wanting to understand personal heart disease risk 
Result  Yes/No for specific mutation  Risk score (low, moderate, high) 
Examples  Familial Hypercholesterolemia  Coronary Artery Disease (CAD), high blood pressure risk 
  • Monogenic Testing can help identify rare but severe conditions early, potentially saving lives with early interventions (like statins or defibrillators). 
  • Polygenic Testing helps predict risk for common heart disease, even when no clear family history exists. It can guide decisions on lifestyle, medication, or how often to monitor heart health.

Product FAQS

Results classify a person’s risk as low, intermediate, or high according to quintiles. Low risk = results falling in quintile 1. Intermediate risk results falling in quintiles 2-4. High risk = results falling into quintile 5.

Yes. The CARDIO inCode-Score Polygenic Risk Score for CAD has been validated in more than 80,000 individuals of different population origins (Spanish, European Americans, Latin Americans, African Americans, and Asians). It has been shown to be independent of classical, clinical risk factors for CAD and contributes approximately 50% of the risk for a cardiovascular event.

No. The CARDIO inCode-Score Polygenic Risk Score for CAD does not include any SNPs known to drive risk for HLD. GENinCode provides a separate Polygenic Risk Score for High LDL (included on the LIPID inCode test) to assess risk for HLD. The SNPs included on this test are known to specifically contribute to risk for CAD, independent of HLD. As such, it is considered as applicable to assessing an individual’s genetic risk for CAD whether or not they have a personal history of HLD. The resulting risk has also been shown to be independent of other classical cardiovascular risk factors.

No. Monogenic variants in the APOE gene which are pathogenic, likely pathogenic, or variants of unknown clinical significance for FH or other dyslipidemias will be reported in the LIPID inCode report. SNPs in the APOE gene are also evaluated as part of the polygenic risk score for high LDL. The results of the polygenic risk score for high LDL are reported as both a numeric value and a decile, and the specific genotypes of the 12 SNPs analyzed are not listed in the patient’s result report. A person’s APOEallele status (E2, E3, or E4) is what is typically associated with dementia/Alzheimer’s risk. APOE allele status is not reported in LIPID inCode test results, as the objective of the test is related strictly to lipidemias and CAD risk.

Results classify a person’s risk as low, intermediate, or high according to deciles. Low risk = results falling in decile 1 or 2. Intermediate risk = results falling in deciles 3-8. High risk = results falling in deciles 9 or 10.

Yes. The Polygenic Risk Score for High LDL included on the LIPID inCode test has been validated and widely published on.

Results classify a person’s risk as low, intermediate, or high according to quintiles. Low risk = results falling in quintile 1. Intermediate risk results falling in quintiles 2-4. High risk = results falling into quintile 5.

Yes. The Polygenic Risk Score for CAD has been validated in more than 80,000 individuals of different population origins (Spanish, European Americans, Latin Americans, African Americans, and Asians). It has been shown to be independent of classical, clinical risk factors for CAD and contributes approximately 50% of the risk for a cardiovascular event.

No. There is no overlap between the two groups of SNPs used in the algorithm to calculate the two different Polygenic Risk Scores. The Polygenic Risk Score for CAD (also available as a stand-alone test, CARDIO inCode-Score) is assessed completely independently of hyperlipidemia. The resulting risk has also been shown to be independent of classical cardiovascular risk factors.

Ordering Information

Testing with GENinCode is straightforward and starts with the completion of a test requisition form.  To help you please download this Quick Resource Guide as it contains useful information on the types of tests, the process, turnaround, support contacts and instructional videos for taking samples.

Contact us to set up an account for your clinic:

Call: +1 (949) 930-0462
Email: info-us@genincode.com

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Coverage Details: Your insurance plan may cover a portion of the cost for out-of-network lab tests.

Deductibles and Co-Insurance: You may need to meet your out-of-network deductible before your insurance begins to cover a portion of the lab test costs. Additionally, co-insurance rates for out-of-network services can be higher than those for in-network services.

Benefits Investigation: We conduct a benefits investigation to review your coverage and contact the patient to review cost effective options that fit within each individual’s situation.

Reach out to discuss billing options, please call 1-800-233-5889.

GENinCode is committed to making our genetic tests accessible and affordable.

What to expect:

GENinCode’s billing partner will perform a benefits investigation for each patient.

Each patient will be contacted to explain their coverage and payment options.

Together, you will determine the best payment option available to move forward with testing.

Billing Commitment

GENinCode’s billing partner will review each patient’s coverage and suggest how best to proceed with payment options. If appropriate, our billing team will proactively provide a pricing estimate to enable the test to move forward with testing.

Insurance:

Most insurance plans cover genetic testing.

Costs can vary depending on the type of insurance, whether insurance coverage criteria is met for genetic testing as identified by plan, and co-pays, deductibles, and co-insurance requirement specific to the plan.

If testing requires prior authorization or medical necessity review, we will work with the healthcare provider and insurance to complete the process.

When the test is complete, we will submit a claim to insurance.

Once insurance processes this claim, an explanation of benefits (EOB) will be sent. Please note this EOB is not a bill.

Billing Options:

Self-Pay:

If a patient is uninsured, insurance does not cover genetic testing, or a patient does not want to use insurance benefits*, we may offer self-pay pricing for testing. If interested in this self-pay option, please work with the billing specialist when they review options. LIPIDinCode is FSA/HSA eligible.

Financial Assistance Program:

Our dedicated billing specialists work with each patient to obtain a comprehensive view of their individual situation and help identify cost-effective and affordable payment options

* Please note that if you choose to use self-pay pricing, the amount paid will not contribute toward your insurance plan’s annual deductible and you cannot submit a claim to your insurance for this amount. Utilizing insurance for your testing may be the best/least cost option if you are anticipating additional healthcare expenditures this calendar year.

14-21 business days* *TAT listed is an average and includes the time from when the sample arrives in the laboratory until the completed results report is sent to the ordering provider

SPECIMEN TYPE:

Buccal (cheek) swabs or 2-5mL whole blood in EDTA tube (Lavender top) are accepted

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Ready to order a test?

Have sample collection kits sent to your office today, at no charge to you. Buccal sample collection kits can also be sent directly to your patient at the time a test is ordered.

*These kits are intended for the use of physicians, genetic counselors, and other medical professionals.

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