What it is
Familial hypercholesterolemia (FH) is an inherited condition in which the body has trouble clearing a type of cholesterol from the blood. Because it is passed down in families, it can be present from birth, even when someone feels well.
Familial hypercholesterolemia genetic testing is a lab test, usually done on a blood or saliva sample. It looks for variants in genes known to be linked with FH. Results may show a disease-causing variant, no variant found, or a variant of uncertain significance.
A genetic test shows risk or carrier status. It does not diagnose heart disease on its own. Results are read alongside personal and family history, physical exam, bloodwork and sometimes imaging, by a qualified cardiologist, lipid specialist or genetic counselor.
How it’s traditionally been approached
FH has traditionally been recognized through cholesterol blood tests, a look at personal history, and patterns of early heart disease or high cholesterol in relatives. Clinicians may also check for certain physical signs during an exam.
Genetic testing has been added to this picture over time. Some clinicians use it to help clarify a picture that is unclear, while others rely mainly on cholesterol levels and family history. Approaches vary between providers.
When a disease-causing variant is found, cascade testing is often discussed. This means offering testing to blood relatives who may share the same variant. Coverage for genetic testing varies by insurer, state and diagnosis, so it helps to confirm with your insurer and provider.
How the right cardiologist may help
The right cardiologist, lipid specialist or genetic counselor may help you decide whether genetic testing makes sense for you. A first visit generally involves reviewing your health history, your family's history of heart disease and cholesterol, and any past lab results.
You might ask: Is genetic testing appropriate for me? What could a positive, negative or uncertain result mean? How would results be used alongside my other tests? Which relatives might want to learn about testing?
It is also worth asking about genetic counseling before and after testing, and about privacy. The Genetic Information Nondiscrimination Act (GINA) protects against genetic discrimination in US health insurance and employment. It does not cover life, disability or long-term-care insurance, so ask about those before testing.
The whole-person view
Body, mind and stress affect each other. Learning that a condition may run in your family can bring up worry, guilt about passing it on, or concern for relatives. Those feelings are common and can affect sleep, energy and daily habits.
Some people find body-based support such as Somatic Experiences helpful for working with stress held in the body. Others prefer talk therapy through Therapists.plus. Neither replaces medical care, and either may sit alongside the guidance of your cardiologist.
Somatic Experiences: nervous system regulation →Somatic Experiences: embodiment and movement →Therapists.plus: anxiety panic and ocd →Therapists.plus: mind body connection →
Keep in mind
- Genetic testing is not a diagnosis by itself, and a negative result does not rule out risk. A variant of uncertain significance is not a diagnosis.
- No test or procedure can promise to prevent a heart attack or sudden cardiac death. Licensed professionals should guide all decisions about testing and care.
- Genetic counseling is recommended before and after testing, and counselor licensing varies by state. Confirm coverage with your insurer and provider.
- For an emergency such as chest pain or trouble breathing, call 911. If you are in emotional crisis, call or text 988.
Not sure where to start? Answer a few gentle questions and choose who you’d like to hear from.
Frequently asked questions
What is familial hypercholesterolemia genetic testing?
Familial hypercholesterolemia genetic testing is a lab test that looks for inherited gene variants linked with FH. It is usually done with a blood or saliva sample. It shows risk or carrier status and is interpreted with your history, exam and bloodwork by a qualified professional.
Who might consider genetic testing for familial hypercholesterolemia?
That decision is made with a licensed clinician after an evaluation. People who talk about it with their provider often have very high cholesterol, a family history of early heart disease, or a relative with a known FH variant. A genetic counselor can help weigh the pros and cons.
Does a negative result mean I do not have FH?
No, a negative result does not rule out risk. Current tests may not find every cause, and FH can be recognized from cholesterol levels and family history even without a found variant. Your provider can explain what a negative result means for you.
What is a variant of uncertain significance?
A variant of uncertain significance is a gene change whose effect is not yet clear. It is not a diagnosis. Its meaning may be updated over time, so it is worth asking your provider or genetic counselor how it will be followed.
Will genetic testing affect my insurance?
The Genetic Information Nondiscrimination Act (GINA) protects against genetic discrimination in US health insurance and employment. It does not cover life, disability or long-term-care insurance. Ask about those before testing, and confirm testing coverage with your insurer.
Should my relatives be tested too?
If a disease-causing variant is found, cascade testing, which means offering testing to blood relatives, is often discussed. A genetic counselor or cardiologist can help you share the information and decide who may benefit. Relatives make their own choices with their own providers.
Educational resource. CardioGenes shares general information and connects people with independent cardiologists. It is not medical advice, diagnosis or treatment. Talk with a licensed professional about your health.