What's this test for?

This test is ideal if you're experiencing symptoms suggestive of congenital adrenal hyperplasia (CAH), or if a common CAH screening test came back unclear or negative despite ongoing concerns. It's also used when you already know you carry a 21-hydroxylase variant, or when a family member has been diagnosed with CAH and you want to understand your own genetic status. This helps confirm a diagnosis, identify silent carriers, or clarify risk before starting a family.

What's included in this test?

This test sequences the entire 21-hydroxylase (CYP21A2) gene, going beyond standard panels that only check for the most common known variants. It's designed to catch rare or unusual mutations that simpler tests can miss, giving a much more complete picture of your genetic status. This matters because even one undetected variant can mean a missed diagnosis or missed carrier status.

What happens after I get my results?

Your results will be available in your account, with an explanation of what the specific gene variant findings mean. Next steps depend on what's found: a positive carrier result may lead to genetic counseling conversations with a partner if planning a pregnancy, while a confirmed pathogenic variant may guide hormone monitoring or treatment planning. You can download the full lab report from your account at any time, and because this is a one-time genetic result, tracking over time isn't typically needed, though you can keep the record in your trends history for future reference.

How can I naturally support adrenal hormone balance?

While genetics can't be changed through lifestyle, supporting overall adrenal health can help manage symptoms if you're affected by CAH. Eating a balanced diet with adequate salt (especially important for salt-wasting forms), managing stress through sleep and relaxation practices, and avoiding excessive intense exercise during illness can help reduce strain on adrenal function. Staying hydrated and treating illnesses promptly is also important, since physical stress can trigger adrenal crises in affected individuals.

When will I get my results?

Results are typically ready within about 7 days of your sample being received at the lab. Genetic sequencing takes a bit longer than standard blood tests because the entire gene needs to be carefully analyzed for rare variants. You'll get a notification as soon as your results are posted to your account.

Who should consider this test?

This test is a good fit for people with symptoms of CAH that haven't been explained by simpler tests, individuals known to carry a CYP21A2 variant, and people with a family history of CAH who want to know their own carrier status. It's also useful for couples planning a pregnancy where one or both partners may carry a CAH-related variant. If a basic CAH screen came back inconclusive but suspicion remains high, this deeper sequencing test can provide clarity.

What symptoms indicate I may need this test?

Signs that may point toward CAH include irregular periods, unusual hair growth, early puberty signs, unexplained salt cravings, low blood pressure, fatigue, or ambiguous genitalia noted at birth. Adults with unexplained infertility or excess androgen symptoms (like acne or excess body hair) despite normal common-variant testing may also benefit. If you have a sibling, parent, or child diagnosed with CAH, that family history alone is a reason to consider testing even without symptoms.

What is CAH and why does it matter?

Congenital adrenal hyperplasia is a genetic condition where the body doesn't make enough of certain adrenal hormones because an enzyme called 21-hydroxylase isn't working properly. This can cause imbalances in hormones that control salt levels, blood pressure, and sexual development. Knowing your genetic status matters because it affects treatment decisions, family planning, and whether children could inherit the condition.

What causes a positive result on this test?

A positive result means a change (variant) was found in your CYP21A2 gene that is known to disrupt the enzyme's normal function. These variants can be inherited from one or both parents, and having one copy typically makes you a carrier, while two copies usually means you're affected by CAH yourself. The specific variant type also helps explain whether the condition would be mild, classic, or severe.

What should I do if my results show a variant?

If your results show you're a carrier, consider sharing this information with close biological relatives since they may also carry the same variant. If you're planning a pregnancy, partner testing can help estimate the chance of having an affected child. If you're found to have two pathogenic variants, monitoring adrenal hormone levels and working on a management plan for symptoms like salt balance and stress response becomes important, and severe symptoms like vomiting, extreme fatigue, or low blood pressure should prompt urgent medical care.

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 Gene Sequencing - 21-Hydroxylase Deficiency Test

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]

CAH Gene Sequencing Test - 21-Hydroxylase Deficiency

CAH (21-Hydroxylase Deficiency) Gene Sequencing

Prescription & all lab fees included

Doctor's guidance included

Fast & convenient

Prescription & all lab fees included

Doctor's guidance included

Fast & convenient

What's this test for?

What's included in this test?

What happens after I get my results?

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CAH Gene Sequencing Test - 21-Hydroxylase Deficiency

Prescription & all lab fees included

Doctor's guidance included

Fast & convenient

1,000,000+ blood tests later, here's what our customers say