What's this test for?

This test is ideal if you're trying to understand a PKU diagnosis, find out if you carry a PKU gene variant, or plan a pregnancy with a known family history of PKU. It's also useful if a newborn screening came back abnormal and you need to confirm the underlying genetic cause. Many people use this test to make informed decisions about family planning or to better understand a relative's diagnosis.

What's included in this test?

This test sequences the PAH gene, the gene responsible for phenylketonuria, looking for changes (variants) that cause the condition or make someone a silent carrier. Analyzing the full gene sequence rather than a single spot lets the lab catch rare or unusual variants that simpler tests might miss. This thorough approach matters most for people with a strong family history or unexplained newborn screening results.

What happens after I get my results?

Your results will be available in your account, with an explanation of what your specific gene finding means. Depending on your result, next steps might include genetic counseling resources, discussing family planning options, or testing a partner if you're found to be a carrier. You can download a standard lab report directly from your account at any time. If you retest in the future or test other family members, you can track and compare results over time using the trends feature.

How can I naturally support PAH gene health?

Genes themselves can't be changed through diet or lifestyle, but if you or a family member is diagnosed with PKU, managing phenylalanine intake through a controlled low-protein diet is the main way to support healthy development. Working with a metabolic dietitian on food choices, using special medical formulas when needed, and avoiding high-protein foods and aspartame are common strategies. Regular monitoring of phenylalanine levels helps keep things on track over time.

When will I get my results?

Results are typically ready within about 7 days after your sample is received at the lab. Because this is a detailed gene sequencing test, it takes a bit longer than routine bloodwork. 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 a personal or family history of PKU, couples planning a pregnancy who want to know their carrier status, and individuals from ethnic groups where PKU is more common. It's also useful for confirming a diagnosis after an abnormal newborn screening result. If you have a sibling, parent, or child with PKU, testing can clarify your own genetic risk.

What symptoms indicate I may need this test?

PKU itself doesn't usually show obvious symptoms in adults since it's typically caught at birth, but signs in an untreated infant can include developmental delays, a musty body odor, lighter skin or hair than family members, and skin rashes. If a relative has been diagnosed with PKU, that family history alone is a good reason to test even without symptoms. Adults who suspect they were never properly screened at birth and have unexplained developmental or neurological issues may also want to consider testing.

What does a positive PAH variant result mean?

A positive result means a disease-causing change was found in one or both copies of your PAH gene. Having one variant typically means you're a carrier and won't have symptoms yourself, but you could pass it to children. Having variants in both copies usually means a PKU diagnosis, which requires dietary management to prevent complications.

How often should I retest?

Genetic results don't change over time, so there's generally no need to retest yourself once you have a clear result. However, you may want to test a partner before or during pregnancy planning, or test other family members like siblings or children based on your own results. Newborns in affected families are typically tested shortly after birth regardless of prior family testing.

What should I do if my results are abnormal?

If you're found to be a carrier or to have PKU, the report will explain what that means for you and any future children. Consider having a partner tested if you're planning a pregnancy, since PKU only affects a child when both parents pass on a variant. For a confirmed PKU diagnosis, starting a phenylalanine-controlled diet as early as possible is the most important step to prevent complications.

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.

PKU Gene Test - Carrier Status & Diagnosis 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]

PKU Gene Sequencing Test — Carrier & Diagnosis Screening

Phenylketonuria (PKU) 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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PKU Gene Sequencing Test — Carrier & Diagnosis Screening

Prescription & all lab fees included

Doctor's guidance included

Fast & convenient

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