What's this test for?

This test is ideal if you're planning a family and want to know if you carry the genetic change linked to Bloom Syndrome, especially if you have Ashkenazi Jewish ancestry. It's also helpful if a close relative has been diagnosed with Bloom Syndrome or if you and your partner are doing genetic screening before pregnancy. Knowing your carrier status ahead of time helps you make informed decisions about family planning.

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 your result is positive, a simple next step is to have your partner tested as well, since Bloom Syndrome only affects a child when both parents carry the mutation. You can download a standard lab report from your account at any time, and since this is a one-time genetic result, there's no need for retesting or tracking trends over time.

Who should consider this test?

People of Ashkenazi Jewish descent are strong candidates, since about 1 in 100 individuals in this group carries the Bloom Syndrome mutation. It's also worth considering if you have a family history of Bloom Syndrome or unexplained short stature, skin pigmentation changes, or early cancers in relatives. Couples planning a pregnancy who want a fuller picture of inherited health risks may also find this test useful.

What symptoms indicate I may need this test?

Bloom Syndrome itself doesn't cause symptoms in carriers — most people who carry the gene change feel completely normal. Signs that prompt testing are usually family-based rather than symptom-based, such as a relative diagnosed with Bloom Syndrome or a family history of short stature, sun-sensitive skin patches, or recurring infections in early childhood. If these patterns show up in your family tree, testing can clarify your own carrier status.

What is Bloom Syndrome and why does it matter?

Bloom Syndrome is an inherited condition that causes cells to break and repair their DNA incorrectly more often than usual. This raises the risk of short stature, skin pigmentation changes, and a higher chance of developing cancer at a younger age. Knowing your carrier status matters most for family planning, since a child needs to inherit the mutated gene from both parents to actually develop the condition.

What does a positive result mean?

A positive result means you carry one copy of the gene change linked to Bloom Syndrome, but carrying one copy does not mean you have the condition yourself. It does mean there's a chance you could pass it to your children, particularly if your partner is also a carrier. The next practical step is having your partner tested so you can understand your combined risk before or during pregnancy.

What does a negative result mean?

A negative result means the specific mutation this test looks for was not found in your sample. This significantly lowers the chance that you carry the Bloom Syndrome gene change, though no genetic test can rule out every possible variant with 100% certainty. If you still have concerns due to strong family history, discussing broader genetic screening options is a reasonable next step.

What causes the Bloom Syndrome mutation to be passed down?

The mutation is inherited, not caused by anything you did or were exposed to — it's simply passed down through DNA from parent to child. It follows what's called a recessive pattern, meaning a child only develops Bloom Syndrome if they inherit the mutated gene from both parents. This is why carrier testing for both partners is so useful in family planning.

How often should I retest?

This is a one-time genetic test — your DNA and carrier status don't change over time, so retesting isn't necessary. The only reason to test again would be to confirm results through a different sample type or lab if there was ever a concern about sample handling. Once you have a clear result, it stays valid for life.

What should I do if my results are abnormal?

If your result comes back positive, the most useful next step is arranging carrier testing for your partner to understand your combined risk as a couple. You can also look into genetic counseling resources on your own to better understand what carrier status means for future pregnancies. Keeping a copy of your report handy is helpful for any future family planning discussions.

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.

Bloom Syndrome DNA Test - Genetic Carrier 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

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