prepare for your visit
before you arrive
Before you arrive, we ask that you pre-register for your visit by calling 937-641-4000 option 3. The pre-registration process allows our team to collect your insurance information required to obtain prior- authorizations. Delaying or skipping this step may cause a delay in care or billing issues.
during your visit
During your first visit with one of our genetic specialists, they may ask questions about medical conditions that run in your family, including birth defects, developmental delays, autism, cancer, cardiovascular disease and more. Before your visit, reach out to family members to collect information about your family health history. While collecting this history, please respect your family’s privacy – some individuals may not be comfortable sharing.
health information to collect:
- Important diagnoses as a child and as an adult
- Name of condition(s)
- Age of diagnosis
- Any cancer history
- Cardiovascular disorders
- Any health conditions present in multiple relatives across generations
- Age of onset
other information to collect:
- Age, if deceased, age and cause of death
- Ethnicity, race
- Lifestyle & environmental factors
- Exposures that may have increased risk
Family health history can be stored as a list. To help record this information use the CDC’s My family health portrait tool.
How much time should I allow for this appointment?
- Please arrive 20 minutes prior to your appointment to register. Allow a total of 1-1/2 hours to cover the registration time, the actual appointment, and lab time (if needed).
Will insurance cover this appointment?
- A genetics visit is separate from genetic testing and is billed as a specialist visit, similar to a visit to any other specialist (gastroenterology, orthopedics, etc.). If you have deductibles, co-pays, or co-insurance these will apply. Like other specialists’ services, our services are often covered. However, every insurance plan is different. You may want to check the terms of your plan before your appointment. Some insurance plans require a referral from your doctor.
Will my insurance cover genetic testing?
- Insurance coverage for genetic testing will be discussed with you at your appointment. During your appointment, the genetics provider will go over your personal and family history and will determine what type of testing is needed. However, please note that there are specific guideline requirements for genetic testing and you may or may not require testing. Testing involves a simple blood test or a spit test. No fasting or special instructions are required.
Is prior authorization needed?
- Prior authorization may be needed for genetic testing and your genetics provider will discuss prior authorization during or after your visit. We are unable to perform prior authorization for genetic testing prior to your appointment since most insurance companies require a genetics visit before authorization can be completed.
MTHFR polymorphism genotyping
In the course of their healthcare journeys, some families may come across information about a gene called MTHFR. Sometimes families first learn about this by:
- doing a genetic test to help with medication management
- a doctor ordering testing for certain variations in this gene when there have been blood clots or the loss of a pregnancy
- doing research online
There are two particular changes in this gene – called C677T and A1298C – which are very common among the general population. In fact, more than 40% of Caucasian people will have one or two copies of the C677T variant! These variations are so common, we don’t think of them as a “mutation” in the genetics community. Instead, we call them “polymorphisms”. A polymorphism is a genetic variation that is so common it can be considered a typical human variation.
Because this change is so common, in the past it has been linked to multiple health problems, including blood clots, heart issues, pregnancy loss, psychiatric disease, vision issues, and more! As time has gone by, we’ve learned that these health issues aren’t directly tied to these changes in the MTHFR gene, but just happened to show up in studies because so many participants have these polymorphisms.
Unfortunately, a lot of online information about these variations can sometimes be misleading. Many families want answers to their health concerns. In the process of trying to figure out what’s going on, they might come across social media or websites that are being guided by older, outdated research. There are even some that try to profit from people who have these variations! Because of this, it’s very important to be careful about what information families rely on regarding MTHFR.
what you should know
The American College of Medical Genetics has an official position on testing for these polymorphisms found here at this link.
In general, genetics healthcare providers will advise against testing for these particular polymorphisms outside of specific circumstances.
ehlers danlos syndrome (EDS)
You have been referred and scheduled for evaluation for possible ehlers danlos syndrome (EDS). While waiting for an appointment, please spend some time reviewing the following:
- The more common type of EDS is hypermobile EDS. There is no genetic testing for this type of EDS. The diagnosis is made based on clinical findings that include an evaluation of your medical history, physical examination, and family history. It is not made through genetic testing. The diagnosis of hypermobile EDS is based on established diagnostic criteria. It is possible that you do not meet the criteria for this diagnosis after your evaluation. This can be the case even if you have previously been told by other providers you may have hypermobile EDS. As hypermobile EDS has many symptoms that are nonspecific, if you are found to not have hypermobile EDS, alternative diagnoses may not be readily available. This may require your continued follow-up with your primary care provider to determine other possible diagnoses.
- Some types of EDS do have genetic testing available. If there are concerns about other types of EDS, then genetic testing options will be discussed during the visit.