Explore our Genetic Testing Panels

Carrier testing for genetic disorders is an important part of the family-building process. At Illume Fertility, we offer an expanded genetic carrier screening panel that includes testing for autosomal recessive disorders. Testing can identify if you are a “carrier” for a specific genetic disorder.

Some examples of this would be Cystic Fibrosis, Sickle Cell Anemia, or Spinal Muscular Atrophy. Even if you don’t have a family history of any of these disorders, it is still possible for you to be a carrier for one or more of these diseases. For most of the disorders on the panel, you are not expected to have any health concerns.

If you and your partner are found to be carriers for the same recessive disorder, it increases your risk of having a child affected by that disorder. For this reason, it is recommended that both partners proceed with genetic testing to maximize the chance of having a healthy baby.

Our genetic counselors are an excellent resource for cases where both partners are found to be carriers for a genetic disorder and will help educate you and provide guidance so you can make the most informed decision possible.

During your first fertility consultation, you and your doctor will discuss your options and what lies ahead on your personal fertility journey. Depending on various factors, your doctor may recommend genetic testing be performed prior to starting fertility treatment. If you decide to move forward with genetic testing panels, you (and your partner, if applicable) will come in for bloodwork which is then sent out to Sema4 for a complete evaluation.

Once Sema4 has completed your genetic testing panels, they will inform both you and your doctor. Depending on your results, you may have a follow-up consultation with one of our genetic counselors to review any potential concerns. Your genetic counselor will provide guidance and explore which options will give you the best chance of a healthy pregnancy and baby.

Being a “carrier” for a particular genetic disorder means that while you may not experience symptoms of the disorder yourself, you carry the genes to potentially affect a future child. If both you and your partner carry the same recessive genes for a particular disorder, your chances of having a child with that disorder are around 25%. 

In short, just because you (and/or your partner) are a carrier for a disorder does not mean that your future child will inherit those genes. But it does warrant discussions with your genetic counselor and doctor about potential impacts and how we can work with you to improve your chances of having a healthy baby.

At your first consultation (and follow-up appointments) you will discuss any existing genetic disorders, your family history and potential concerns with your doctor and your genetic counselor. They will carefully consider any existing genetic challenges in order to provide the best guidance for you about how to proceed with fertility treatment.

Depending on your medical and family history, you may have an initial consultation with a genetic counselor soon after becoming an Illume Fertility patient or simply have a follow-up consultation after receiving your genetic testing results. 

Here’s what to expect at an appointment with one of our genetic counselors:

• We will collect your medical and family history prior to your appointment 
• You will discuss your family medical history and any genetic testing results
• There will be time to ask your genetic counselor any questions 
• You may discuss possible fertility treatment options and any considerations for your specific situation 

We encourage you to come to your appointment prepared with a list of questions, if you have any. If you’re not sure what to ask, don’t worry! Your genetic counselor will guide you through the process and be happy to answer any questions that arise during your consultation.

Coverage for genetic testing varies widely between insurance carriers and individual healthcare plans. You will be assigned an Insurance & Billing Advocate after becoming an Illume Fertility patient who can help you get answers about whether or not genetic testing panels are covered by your particular insurance plan. Don’t have insurance? Ask to explore self-pay options with your Insurance & Billing Advocate!

The chances are actually fairly high that we are all carriers for genetic disorders, but this only becomes a concern if your partner (or donor) is a carrier for the same disorder. The answer to this question is also impacted by your ethnicity. For example, Black individuals have an approximately 1 in 10 chance of being a carrier for sickle cell anemia, while white individuals have a 1 in 25 chance of being a carrier for cystic fibrosis