Appropriate Testing
Not every test is right for every family. Understanding what is medically appropriate — and how to access it — is one of the most important things we help families navigate.
Types of Cardiac Genetic Testing
Genetic Panel Testing
Who it's for
Individuals with a first-degree relative with a confirmed hereditary cardiac variant, or those with unexplained cardiac findings.
What it measures
Analyzes specific genes associated with hereditary cardiomyopathy and arrhythmia syndromes. Results guide family cascade screening.
Echocardiogram
Who it's for
Anyone with a family history of cardiomyopathy, unexplained shortness of breath, or a new murmur.
What it measures
Ultrasound imaging of the heart structure and function. Non-invasive, widely available, and often a first-line evaluation.
Cardiac MRI
Who it's for
Patients with inconclusive echocardiogram findings or suspected infiltrative cardiomyopathy such as cardiac amyloidosis.
What it measures
High-resolution imaging that can detect amyloid deposits, scarring, and structural abnormalities not visible on echo.
Technetium (Tc99m) Bone Scan
Who it's for
Patients with suspected ATTR amyloidosis — particularly older adults with unexplained heart failure and thickened walls.
What it measures
A non-invasive nuclear scan that detects ATTR amyloid in the heart with high specificity. A major diagnostic advance.
TTR Genetic Testing
Who it's for
Anyone with confirmed or suspected ATTR amyloidosis who wants to determine whether the hereditary variant is involved.
What it measures
Determines whether transthyretin amyloidosis is wild-type (age-related) or hereditary (hATTR) — which has significant implications for family members.
EKG / Holter Monitor
Who it's for
Patients with palpitations, syncope, unexplained arrhythmia, or family history of sudden cardiac death.
What it measures
Records the heart's electrical activity to detect rhythm disorders associated with hereditary conditions like Long QT syndrome.
Navigating Access Barriers
Insurance Coverage
Request prior authorization with a documented family history. Ask your physician to include the clinical indication in writing. 3HF can help you organize this conversation.
Open & Fill OutFinding a Specialist
Ask your primary care physician for a referral to a cardiologist who specializes in inherited heart conditions, or a certified genetic counselor with cardiac expertise.
Open & Fill OutUnderstanding Results
Request a genetic counseling appointment after any genetic panel result — including negative results. Results have implications for other family members.
Open & Fill OutCost and Financial Support
Some genetic testing companies offer financial assistance programs. Patient advocacy organizations, including the Amyloidosis Foundation, maintain lists of support resources.
Open & Fill OutToolkits are for educational and organizational use only. They do not constitute medical advice. Every field is optional.
Reputable External Resources
External links provided for educational reference only. These organizations are not formal 3HF partners. Links open in a new tab.
Common Questions
How do I know which tests are right for me?
Your physician or genetic counselor decides what is clinically appropriate based on your family history and findings. Our role is helping you prepare the questions and understand the landscape before that conversation.
Will insurance cover cardiac genetic testing?
Often yes when there is documented family history or a clinical indication — but prior authorization is common. Ask your physician to document the indication, and ask the lab about assistance programs.
What if my test result is a Variant of Uncertain Significance (VUS)?
A VUS means science cannot yet say whether the variant is harmful. It is not a diagnosis and should not drive treatment decisions by itself. A genetic counselor can explain what it means for your family.
Does a negative genetic test mean I have no risk?
Not always. A negative result is reassuring but depends on which genes were tested and what runs in your family. Discuss the meaning of any result — positive or negative — with a genetic counselor.
What is Heart & Heritage's role in the testing process?
We educate and navigate: we help you understand what testing exists, prepare questions, and overcome access barriers. We never order, perform, or interpret tests.
