Bloom Syndrome Carrier Test
Bloom Syndrome Carrier Test is a laboratory test you can order directly. The Bloom Syndrome Carrier Test uses a blood sample to check whether a person carries a gene change linked to Bloom syndrome, a rare inherited condition. It is usually ordered when someone has a family history of the condition or wants to know their carrier status before starting a family.
- Sample type
- blood
- Category
- General Wellness
- Turnaround
- 1-3 business days
- Price
- $149
- Referral
- Not required
The Bloom Syndrome Carrier Test uses a blood sample to check whether a person carries a gene change linked to Bloom syndrome, a rare inherited condition. It is usually ordered when someone has a family history of the condition or wants to know their carrier status before starting a family.
What it measures
- BLM gene variants — Looks for specific changes in the BLM gene that can cause Bloom syndrome when two copies are present.
- Carrier status — Reports whether you carry one changed copy of the gene, which usually does not affect your own health.
- Variant classification — Describes any found variant as pathogenic, likely pathogenic, or a variant of uncertain significance.
- Sample quality — Confirms the blood sample had enough DNA for reliable testing.
Who it is for
This test is typically ordered by a doctor or genetic counselor for adults with a personal or family history of Bloom syndrome, or for people in populations where the condition is more common. It may also be requested by couples planning a pregnancy.
Preparation
No fasting or special preparation is needed. You can eat and drink normally before the blood draw.
Results and what they mean
Results are reported as positive (carrier), negative (not a carrier), or a variant of uncertain significance. A clinician or genetic counselor interprets the result in the context of your family history. This is general information, not medical advice; discuss your results with a qualified professional.
How to order this test
- Choose the test and place a confidential order online.
- Select a certified collection site and pick a time that suits you.
- Have your specimen collected — most draws take only a few minutes.
- Review results in a secure portal, typically within 1–3 days.
Preparation, hours, and pricing vary by site; confirm details directly with the lab before your visit.
Availability by state
Direct-access online ordering for the bloom syndrome carrier test is available in most states. It is currently unavailable in 6 states:
Everywhere else you can order confidentially and collect your sample at a certified site. Browse by state →
Frequently asked questions
Does being a carrier mean I have Bloom syndrome?
No. Carriers have one changed copy of the BLM gene and typically do not have the condition. Bloom syndrome occurs only when a person inherits two changed copies, one from each parent.
Can I find out if my partner is also a carrier?
Yes. If you are a carrier, your partner can be tested. A genetic counselor can explain the chances of having an affected child.
Is this test covered by insurance?
Coverage varies by plan and reason for testing. Check with your insurance company or the testing lab before the test.
How long do results take?
Results are usually available in 1 to 3 business days after the lab receives your sample.