What's this test for?

This test is ideal if you or your partner have achondroplasia and are expecting a baby, or if a prenatal ultrasound showed unusual bone growth patterns. It looks for the specific genetic change that causes achondroplasia, the most common form of short-limbed dwarfism. It can also be used to confirm a diagnosis in someone already showing physical signs of the condition.

What happens after I get my results?

Your results will show up in your online account with a clear explanation of what a positive or negative finding means. If the result is positive, next steps typically involve discussing pregnancy planning or confirming a clinical diagnosis, and retesting isn't usually needed since this is a one-time genetic result. A downloadable lab report is available in your account for your records, and you can revisit it anytime through the trends feature.

What's included in this test?

This test analyzes the FGFR3 gene, the gene responsible for nearly all cases of achondroplasia. Analyzing this single gene matters because a specific mutation in it disrupts normal bone growth, leading to the short stature and bone changes seen in this condition.

How can I naturally support healthy pregnancy outcomes?

While you can't change genetic results through lifestyle, supporting a healthy pregnancy overall can help. Eating a balanced diet with enough folate, staying active as advised, and avoiding alcohol and smoking all support general fetal development. Keeping up with routine prenatal visits and ultrasounds helps track your baby's growth alongside any genetic findings.

When will I get my results?

Results are typically ready within about 7 days after your sample is collected. Because this is a specialized genetic test, it takes a bit longer than routine bloodwork to process. You'll get a notification as soon as your results are ready to view in your account.

Who should consider this test?

This test is a good fit for parents who have achondroplasia themselves and want to know their baby's genetic status before birth. It's also useful when an ultrasound shows bone measurements or limb lengths outside the typical range. People who already show physical features of achondroplasia and want genetic confirmation should consider it too.

What symptoms indicate I may need this test?

Signs that might point to achondroplasia include shorter-than-average limbs compared to torso length, a larger head size, and specific facial features like a prominent forehead. In a fetus, these signs are usually picked up on ultrasound as unusual bone measurements. In adults, a doctor typically notices these features on physical exam before this genetic test is used to confirm the diagnosis.

What is achondroplasia and why does it matter?

Achondroplasia is a genetic condition that affects how cartilage turns into bone, leading to shorter limbs and a distinctive body shape. It's caused by a change in a single gene called FGFR3. Understanding whether you or your baby carry this change helps with planning care and knowing what to expect developmentally.

What does a positive result mean?

A positive result means the specific genetic change linked to achondroplasia was found. This confirms the diagnosis in a person already showing physical signs, or tells expecting parents that their baby will likely have the condition. This information can help with preparing for delivery and postnatal care specific to achondroplasia.

What should I do if my results are positive?

If your result comes back positive, it helps to learn more about achondroplasia so you know what to expect physically and developmentally. Connecting with support groups or organizations focused on dwarfism can provide practical guidance. For expecting parents, discussing delivery planning with your birthing team ahead of time is a helpful next step.

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.

Achondroplasia Mutation Test - Prenatal & Diagnosis

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]

Achondroplasia Genetic Test — Dwarfism Mutation Analysis

Achondroplasia Mutation Analysis

Prescription & fees included

Easy to understand results

Fast & convenient

Prescription & fees included

Easy to understand results

Fast & convenient

What's this test for?

What's included in this test?

What happens after I get my results?

Here’s why 1,000,000+ customers chose us for affordable hassle-free private blood testing.

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Achondroplasia Genetic Test — Dwarfism Mutation Analysis

Prescription & fees included

Easy to understand results

Fast & convenient

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