Gathering personal and family history information prior to your visit will help you get the most from your visit and maximize your time with your providers. The more we know, the more we can help. Below is a checklist to help you prepare for your visit:
This information can be sent to Judy Fan (Genetic Counselor) at email@example.com or via MyChart prior to your visit to better help us prepare. Consider bringing someone with you to the appointment, such as a family member. Our team will discuss a lot of information with you, and another person can help you listen and think of questions.
Symptoms can vary based on the underlying cardiovascular problem. They can include: chest pain; shortness of breath; pain, numbness, or weakness in arms and legs; irregular heartbeat; dizziness; lightheadedness; fainting or near fainting; swelling in the legs or abdomen; tiring easily during exercise.
If possible, please provide us with copies of notes from your cardiologist and other medical specialists. This may include imaging results, like an echo, ultrasound, or MRI, or clinic notes documenting a visit or surgery. If you do not have a copy of your medical records, you may sign a copy of our medical release form and send it to us.
A good family history is integral to the evaluation of inherited causes of cardiovascular conditions and is the primary tool used in identifying relatives at highest risk of developing the condition. This is documented by drawing the family tree, or pedigree. Below are instructions on generating a pedigree online. Alternatively, you can fill in the information using this form.
It is important to gather certain pieces of information about your blood relatives who have had cardiovascular problems, including the names of diagnoses, symptoms and ages at which symptoms began. If anyone has passed away, it is important to know the cause, even if it is seemingly unrelated, such as an accident.
Online Family History Tool
1) Please visit www.progenygenetics.com/online-pedigree/ and click on ‘begin pedigree.’
2) Choose ‘pedigree builder’ and follow the instructions to generate the pedigree.
3) Circles indicate females; squares indicate males. An arrow points to the one representing you.
4) Clicking on each circle or square will reveal arrows and a green + sign.
The yellow arrows allow you to add relatives. Hovering over each one will show you who will be added by clicking that arrow. Please also add the children of each aunt and uncle.
The green + sign allows you to enter information about that person. To enter medical problems, choose ‘apply subtext.’ It is helpful to have specific names of diagnoses and ages of onset. Please also include names and ages. Please uncheck ‘Show Subtext Legend.’
5) Please print by clicking the ‘print’ button in the top left corner. Select ‘Landscape’ and check ‘fit to page.’
6) Please feel free to contact Judy, genetic counselor, at 310.206.6516 or firstname.lastname@example.org if you have any questions.
Please provide us with copies of any previous genetic test result, even if they are normal. If anyone in your family has had genetic testing, their results would also be useful for your evaluation.
Inherited or genetic forms of cardiovascular conditions are caused by differences or changes in the DNA, called mutations, in various genes that are involved in the development, structure and function of the heart and blood vessels. We provide genetic counseling before testing in order to discuss the implications, benefits, and limitations of the testing for you and your family. When results are available, our team will make recommendations about follow up for you and your family.
Genetic testing for diagnosis and treatment
In some cases, genetic testing can help determine the right diagnosis and treatment. Sometimes it’s not clear exactly what sort of heart condition someone has, even after they have had cardiac tests, such as an electrocardiogram (ECG) or an echocardiogram (ultrasound of the heart). In these cases, genetic testing may be able to help make the right diagnosis.
Genetic testing is first done on a family member who has the heart condition. If this testing finds the mutation that caused that person’s heart condition then other family members can be tested for that same mutation. Family members who inherited the mutation could develop the heart condition. These family members need to be evaluated by a cardiologist for signs of the inherited heart condition. Special cardiac tests are often needed and usually need to be repeated every few years. Family members who did not inherit the mutation are not at increased risk to develop the heart condition that’s in their family. They do not need any special cardiac evaluations.
Cost of genetic testing and insurance coverage
Most private insurers cover all or part of the cost of genetic tests. Whether or not you have to pay for part of the test will depend on the test you are undergoing, your insurance and the laboratory doing the test. As part of your genetics evaluation, our team can help you check with your insurance company to find out how much of the test is covered and what your share of the cost may be.