Chromosome breakage test for Fanconi anemia in patients with family cancer history

Fanconi Anemia Chromosome Breakage Test (DEB Assay)

Chromosome Analysis, DEB Assay for Fanconi Anemia

  • Screen for inherited chromosome instability disorders
  • Detect Fanconi anemia related DNA repair issues
  • Assess family cancer and bone marrow risk
$1237
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What's this test for?

This test is ideal if you're experiencing symptoms or family history that raise concern for Fanconi anemia, such as unexplained bone marrow failure, unusual bruising or bleeding, birth defects, or a strong family history of early-onset cancers. It's often used when a child or adult has physical features or blood counts that don't add up, and a genetic cause is suspected. This is a first-line screening test, not a carrier or prenatal test.

What's included in this test?

This test looks specifically at how your chromosomes respond to a DNA cross-linking chemical called diepoxybutane, or DEB. It matters because people with Fanconi anemia have a much harder time repairing this type of DNA damage, so their cells show a distinctly higher number of chromosome breaks compared to people without the condition.

What happens after I get my results?

Your results will appear in your account along with an explanation of what a normal versus abnormal chromosome breakage count looks like. If your result is positive, the recommended next step is genetic testing to pinpoint the specific gene change involved, while a negative result with low clinical suspicion typically doesn't need further testing. An indeterminate result may call for a follow-up skin fibroblast breakage test. You can download the full lab report from your account at any time and use the trends feature to keep track of any future related testing.

When will I get my results?
Results are typically ready within about 7 days after your sample is processed at the lab. This timeframe allows for the lymphocytes to be cultured and properly treated with the DEB agent before analysis. You'll be notified as soon as your report is available in your account.
Who should consider this test?
This test is worth considering if you or a family member have unexplained bone marrow failure, congenital abnormalities, unusual sensitivity to chemotherapy, or a personal or family history suggestive of Fanconi anemia. It's also relevant for people from populations with higher carrier rates of related gene changes, including those of Ashkenazi Jewish, Afrikaner, sub-Saharan African, Roma, or South Asian descent. Talk with your care team about whether your symptoms or history warrant this screening.
What symptoms indicate I may need this test?
Signs that may point to Fanconi anemia include low blood cell counts, frequent infections, excessive bruising or bleeding, short stature, skin discoloration, birth defects affecting the thumbs, arms, or skeleton, and kidney or heart abnormalities present from birth. Some people are only flagged after showing extreme sensitivity to chemotherapy drugs. If several of these signs run in your family or appear together, this screening test can help clarify what's going on.
What is Fanconi anemia and why does it matter?
Fanconi anemia is an inherited condition that affects how your cells repair damaged DNA, which can lead to bone marrow failure, physical abnormalities, and a higher risk of certain cancers. It matters because early identification allows for closer monitoring and management before serious complications like severe anemia or cancer develop. Since it's typically inherited from both parents carrying a gene change, understanding your status can also inform family planning.
What does a high chromosome breakage result mean?
A high number of chromosome breaks after DEB exposure suggests your cells have trouble repairing DNA damage, which is the hallmark of Fanconi anemia. This kind of result is usually followed by genetic testing to confirm the diagnosis and identify the exact gene involved. It's important to discuss any positive result promptly since early management can significantly improve outcomes.
What causes an abnormal chromosome breakage result?
An abnormal result is caused by inherited gene changes that impair your body's DNA repair machinery, most commonly seen in Fanconi anemia. In rarer cases, similar results can come from other chromosome breakage disorders like Nijmegen breakage syndrome, Roberts syndrome, or Warsaw breakage syndrome. Because these conditions overlap, follow-up genetic testing helps pin down the exact cause.
What should I do if my results are abnormal?
If your result comes back positive or indeterminate, the next step is usually genetic testing to identify the specific pathogenic variant responsible. It's also a good idea to share your family history and any physical symptoms alongside your results, since these details help put the finding into context. If you experience severe symptoms like unusual bleeding, extreme fatigue, or frequent infections, seek medical care right away.
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.

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Demo results
Chromosome Breakage (DEB Assay) Negative
Demo results
Negative (Normal Breakage) Positive (Increased Breakage)
Negative

What this means

A negative result means your cells showed a normal amount of chromosome breakage after exposure to the DEB agent, which does not support a diagnosis of Fanconi anemia. If clinical suspicion remains low, no further breakage testing is typically needed. A positive result, by contrast, would indicate increased chromosomal instability consistent with Fanconi anemia or a related disorder.

* Regular blood test results (e.g., CBC) typically start arriving the next business day after sample collection. More advanced tests may take longer due to complexity.
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Fanconi Anemia Chromosome Breakage Test (DEB Assay)

  • Screen for inherited chromosome instability disorders
  • Detect Fanconi anemia related DNA repair issues
  • Assess family cancer and bone marrow risk
$1237
Still got questions? Text our super-cool support team at 754-799-7833 to get help finding your ideal checkup.