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Genetic test for JAK2 mutations helping diagnose blood disorders like polycythemia vera

Blood Test for High Red Blood Cell Count and Blood Disorders

JAK2, Exon 12 Mutation Analysis

Google
3,141 reviews
  • Checks for specific gene mutations
  • Helps diagnose blood disorders
  • Identifies JAK2 gene changes
First results as soon as overnight*

90 day happiness guarantee

We stand behind our service

Prescription & fees included

Go directly to the lab, no extra fees

Easy to understand results

With friendly doctor's notes & guidance

Fast & convenient

Lab visit as quick as 10 mins in & out

90 day happiness guarantee

We stand behind our service

Prescription & fees included

Go directly to the lab, no extra fees

Easy to understand results

With friendly doctor's notes & guidance

Fast & convenient

Lab visit as quick as 10 mins in & out

What's this test for?

This test is ideal if you've been experiencing symptoms of unusual blood disorders such as unexplained high red blood cell counts, persistent itching after bathing, or an enlarged spleen. It helps identify specific JAK2 gene mutations in Exon 12, which are rare genetic changes associated with certain blood disorders like polycythemia vera. This test is typically ordered when standard JAK2 V617F mutation testing is negative but your symptoms and blood work still suggest a blood disorder.

What's included in this test?

This test analyzes the Exon 12 region of the JAK2 gene to identify specific mutations that can cause blood disorders. These mutations affect how your bone marrow produces blood cells, potentially leading to overproduction of red blood cells and related complications. The analysis helps confirm a diagnosis when other testing has been inconclusive and guides appropriate treatment decisions.

What happens after I get my results?

You'll receive detailed doctor notes in simple language explaining whether JAK2 Exon 12 mutations were detected and what that means for your blood health. These notes include personalized guidance on next steps, such as consulting with a hematologist, monitoring blood counts, or discussing treatment options if mutations are found. You'll also get the standard lab report and can track your results over time using our trends feature, which is especially helpful for ongoing monitoring of blood disorders.

Who should consider getting this test?
This test is for people who have symptoms or blood work suggesting a myeloproliferative disorder (like polycythemia vera) but tested negative for the more common JAK2 V617F mutation. It's typically recommended by a hematologist when you have unexplained high hemoglobin or hematocrit levels, enlarged spleen, or unusual blood clotting issues. This is a specialized diagnostic test, not a routine screening.
What symptoms indicate I may need this test?
Key symptoms include persistent high red blood cell counts, intense itching especially after warm baths or showers, reddish or purple skin coloring, headaches, dizziness, or vision problems. You might also experience fatigue, night sweats, unexplained weight loss, or a feeling of fullness due to an enlarged spleen. These symptoms combined with abnormal blood work warrant investigation for JAK2 mutations.
What is a JAK2 mutation and why does it matter?
JAK2 is a gene that controls blood cell production in your bone marrow. When mutations occur in this gene, it can cause your body to make too many blood cells, particularly red blood cells. While the V617F mutation is more common, Exon 12 mutations are rarer but can cause similar blood disorders that need specific treatment and monitoring to prevent complications like blood clots.
What does a positive result mean?
A positive result means a JAK2 Exon 12 mutation was detected, which confirms a diagnosis of a myeloproliferative disorder, most commonly polycythemia vera. This explains your symptoms and abnormal blood counts, and helps your doctor create a treatment plan. Treatment may include phlebotomy (blood removal), medications to control blood cell production, and monitoring to prevent complications like blood clots or stroke.
What does a negative result mean?
A negative result means no JAK2 Exon 12 mutations were found, but this doesn't rule out all blood disorders. Your doctor may recommend additional genetic testing for other mutations (like CALR or MPL) or investigate other causes of your symptoms. Sometimes blood disorders have no identifiable genetic mutation but still require treatment based on your symptoms and blood work.
How often should I retest this?
JAK2 Exon 12 mutation analysis is typically a one-time diagnostic test, as genetic mutations don't change over time. Once you have a positive or negative result, retesting the same mutation isn't necessary. However, your doctor will monitor your blood counts regularly (every few months) and may order different genetic tests if your condition changes or if new symptoms develop.
What should I do if my test is positive?
If positive, you'll need to work closely with a hematologist who specializes in blood disorders. Treatment focuses on reducing blood cell counts to prevent complications like blood clots, heart attack, or stroke. This may include regular blood removal (phlebotomy), low-dose aspirin, or medications like hydroxyurea. Regular monitoring of blood counts and symptoms is essential for managing the condition long-term.
How’s this work?
Getting your blood test with us is easy, private & backed by the power of science.

Long story short:
  1. In the test options, use the filters or search box to narrow your choices and find the test you want.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy!
  8. If you have any questions, please text us at 754-799-7833 or email [email protected] 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 [email protected], and we'll gladly help you. We've got your back and reply quickly.
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 [email protected]. 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 [email protected].
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 [email protected].

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 [email protected] and we'll gladly help you.

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

You get clinical lab reports & simplified health insights.
Save time & gas, go straight to the lab. Our doctors cover the rest.
Results start landing the next day after your lab visit.*
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US-licensed doctors have your back if things get unclear.
No hidden fees, nice discounts for regular checkups.
Save a trip to the doctor, go directly to the lab
Instant orders, results often overnight*
Results explained in simple language
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Fast & confidential, we never sell or share your data
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Demo results
JAK2 Exon 12 Mutation Not Detected
Demo results
Not Detected Detected
Not Detected

What this means

Your test came back negative, meaning no JAK2 Exon 12 mutations were detected in your sample. This is the normal result, though it doesn't completely rule out all blood disorders if you're still experiencing symptoms.

* Regular blood test results (e.g., CBC) typically start arriving the next business day after sample collection. More complex tests, such as hormone panels, may take up to 10–15 business days due to their complexity.
Here’s how easy it is to get blood work done on your terms
Choose a checkup
Order your test Save a trip to the doctor. Your results will come with clear, friendly explanations. Takes 2 minutes
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Book an appointment Visit any of our 4,000 nearby lab locations to have your samples collected. Book or walk-in
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Get results Receive a clear, easy-to-digest health report by email & SMS within a few business days. Get answers, fast

Blood Test for High Red Blood Cell Count and Blood Disorders

Google
3,141 reviews
  • Checks for specific gene mutations
  • Helps diagnose blood disorders
  • Identifies JAK2 gene changes

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

Google reviews 3141 reviews Next
Still got questions? Text our super-cool support team at 754-799-7833 to get help finding your ideal checkup.