What's this test for?

This test is ideal if you're expecting a baby and you or your partner are known carriers of a CYP21A2 gene change linked to congenital adrenal hyperplasia (CAH). It looks at fetal cells to check whether the baby has inherited one or more of 11 common mutations tied to this condition. It's typically used when parental carrier status is already known, since that information is needed to interpret the fetal results correctly.

What's included in this test?

This panel checks fetal DNA for 11 specific, well-documented changes in the CYP21A2 gene, the gene most often responsible for 21-hydroxylase deficient CAH. Looking at these common mutations together, rather than one at a time, gives a fuller picture of inherited risk when parental carrier status is already known. This approach is faster and more targeted than full gene sequencing when the family's specific mutations have already been identified.

What happens after I get my results?

Your results will be available in your account, with an explanation of what a positive or negative finding means for each mutation checked. Because this is a specialized prenatal genetic test, next steps often involve confirming findings with additional testing such as full CYP21A2 gene sequencing if a common mutation isn't found but is still suspected. A downloadable lab report is available in your account for your records, and any related follow-up testing can be tracked over time using the trends feature. If a result suggests a serious concern, arranging prompt follow-up testing is recommended.

How can I naturally support a healthy pregnancy while awaiting genetic results?

While no lifestyle step changes your baby's genetic makeup, supporting overall pregnancy health can help you feel your best while you wait. Eating a balanced diet, staying hydrated, taking a prenatal vitamin with folic acid, and getting adequate rest are all good general practices. Reducing stress where possible, such as through light exercise or relaxation techniques, can also help you cope during the waiting period.

When will I get my results?

Results for this specialized prenatal genetic panel are generally ready within about 7 days of the lab receiving the fetal sample. Because parental reports must be submitted with or before the fetal sample, timing can depend on how quickly that parental information is provided. Your account will show your results as soon as they're finalized by the lab.

Who should consider this test?

This test is meant for parents who are already known carriers of a CYP21A2 mutation and are currently pregnant. It's most useful when parental variants have been clearly identified beforehand, since the fetal results are compared against those specific mutations. Couples with a known family history of CAH or a previously affected child are common candidates.

What symptoms in a newborn might indicate CAH?

Babies with 21-hydroxylase deficient CAH can show signs like ambiguous genitalia at birth, poor weight gain, vomiting, dehydration, or low blood sugar in the first days or weeks of life. Some forms are milder and may not show obvious symptoms until later childhood, appearing instead as early puberty or irregular growth patterns. Knowing carrier status ahead of time through this kind of testing helps families and newborn care teams watch for these signs early.

What is CAH and why does it matter?

Congenital adrenal hyperplasia (CAH) is an inherited condition that affects how the adrenal glands make certain hormones, most often due to a lack of the enzyme 21-hydroxylase. This can lead to hormone imbalances that affect a baby's physical development and, in more severe cases, its ability to manage stress, salt, and blood sugar. Because it's inherited, knowing about a mutation before birth allows for closer monitoring and quicker action after delivery if needed.

What causes a positive result to occur if both parents are carriers?

If both biological parents carry a mutation in the CYP21A2 gene, there's a chance with each pregnancy that the baby inherits one altered copy from each parent, resulting in CAH. This is called an autosomal recessive pattern of inheritance. Testing the fetus for the exact mutations already found in the parents is what allows this panel to give a clear answer about inherited risk.

What should I do if my results show a mutation was inherited?

If a result shows the baby has inherited one or two CYP21A2 mutations, the next step is usually confirming the finding and planning for newborn monitoring right after birth, since early detection allows for prompt management of hormone levels. It can help to prepare care teams in advance so blood sugar, salt levels, and hormone status can be checked soon after delivery. Genetic counseling resources, such as contacting the lab's genetic counselor line, can help clarify what the specific mutation combination means for your baby.

Getting your blood test with us is easy, private & backed by the power of science.Long story short: In the test options, use the filters or search box to narrow your choices and find the test you want. If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test. Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout. If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want. When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system. Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way. You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy! If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.

How do I know which test to get?

In the test options, find the test you want. If you’re not sure which test to get, we can lend a hand in finding the right option. Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

When will my lab results be available?

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know. After your blood draw, just hang tight and don't worry – we'll keep you updated and in the loop! If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com, and we'll gladly help you.

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Absolutely! We totally understand that errors can happen. No worries, we're here to help you. Just reach out to us via text at 754-799-7833 or shoot us an email at support@privatemdlabs.com. Remember to include your order number and let us know the correct information you’d like to update. Our awesome team will jump right in and make sure everything is sorted out and accurate for you. There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out. Our lab requires an address to be listed to generate an order.

Do you accept health insurance?

Only HSA & FSA is accepted. Our services are strictly self-pay and cannot be submitted to your health insurance provider except for Health Savings Accounts or Flexible Savings Accounts. This policy applies to all insurance companies, including federal health insurance programs like Medicare. If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com.

Can I cancel my order?

Yes. We get it – sometimes your needs change. As long as your samples haven’t been collected yet, we’re happy to help you cancel your order. If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com. You can read more about our cancellation policy here.

How can I find a lab location near me?

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached! You can switch it up later easily and visit any of our authorized locations as long as it’s the same lab company you selected your test for (Quest Diagnostics or Labcorp). Before you proceed with your order, feel free to browse through all our lab locations here. This will give you the peace of mind of knowing that there's a lab nearby your home, office or your favorite gym. If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.

CAH Fetal Mutation Test - Prenatal CYP21A2 Screening

Getting your blood test with us is easy, private & backed by the power of science.

Long story short:

In the test options, use the filters or search box to narrow your choices and find the test you want.
If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout.
If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want.
When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way.
You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy!

754-799-7833

[email protected]