Test library
Bloom Syndrome Mutation Carrier Test
A Bloom syndrome carrier test uses a blood sample to check for a common mutation in the BLM gene. It helps assess carrier status, especially for people with Ashkenazi Jewish ancestry.
Order Bloom Syndrome Carrier Test
Order online and visit a local collection site, or choose an at-home kit where available. No referral and no insurance required.
Order Bloom Syndrome Carrier Test- Typical turnaround
- 1-3 business days
- Starting price
- From $149
- Results
- Confidential, online
Quick answer
The Bloom syndrome carrier test is a genetic blood test that looks for a specific mutation in the BLM gene. Bloom syndrome is an inherited condition passed in an autosomal recessive pattern, which means a person must inherit a mutation from each parent to be affected. A carrier has one altered copy and usually no symptoms. This test helps people understand whether they carry the common founder mutation associated with Ashkenazi Jewish ancestry.
What this test measures
Bloom syndrome is a rare inherited disorder caused by changes in the BLM gene. The gene provides instructions for a protein that helps maintain the stability of DNA. When it does not work properly, cells show a higher rate of genetic changes, which can lead to the features associated with the condition, such as short stature and a sensitivity to sunlight.
The condition follows an autosomal recessive pattern. A person who inherits one altered copy of the gene is a carrier and typically has no health effects from that single copy. If both parents are carriers, each pregnancy has a chance of producing a child who inherits two altered copies and is affected. Carrier testing looks for a common mutation in the BLM gene that is seen more often in people of Ashkenazi Jewish descent.
The test requires a blood sample, and the laboratory examines the BLM gene for the mutation of interest. It can identify carriers and may also be used in a diagnostic setting when a healthcare provider suspects the condition. Genetic results carry implications for family members as well, so counseling before and after testing is often recommended to help interpret what a result means.
- BLM gene mutation analysis
- Common Ashkenazi Jewish founder mutation in BLM
- Carrier status for Bloom syndrome
- Autosomal recessive inheritance assessment
- Genotype at the tested BLM variant
- Family planning risk information
Why people order this test
- Assess carrier status before or during family planning
- Screen when there is Ashkenazi Jewish ancestry
- Follow up on a family history of Bloom syndrome
- Support reproductive risk assessment with a provider
- Evaluate a known BLM mutation in relatives
- Help inform genetic counseling discussions
How to prepare
No fasting is required for this genetic test. A blood sample is collected from a vein, usually at the arm. Follow any instructions provided by the laboratory or genetics service, and consider genetic counseling to help interpret the result.
Understanding your results
Results are typically available within one to three business days after the laboratory receives the sample, though genetic testing timelines can vary. The report indicates whether the tested BLM mutation was detected. A qualified healthcare provider or genetic counselor interprets the result and explains what it means for you and your family.
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Frequently Asked Questions
What is Bloom syndrome?
It is a rare inherited condition caused by changes in the BLM gene. It affects growth and DNA stability and follows an autosomal recessive inheritance pattern.
What does it mean to be a carrier?
A carrier has one altered copy of the gene and usually no symptoms. Carriers can pass the altered copy to their children.
Why is this test common in Ashkenazi Jewish ancestry?
Certain founder mutations appear more often in specific populations, including people of Ashkenazi Jewish descent, so carrier screening is sometimes offered.
Does a negative result rule out being a carrier?
A negative result means the specific mutation tested was not found. Other rare variants may exist that the test does not detect, which a genetic counselor can explain.
Should family members be tested too?
Genetic results can have implications for relatives. A genetic counselor can discuss whether testing other family members is appropriate.
Ready to get tested?
Order online and visit a collection site near you, or choose a mail-in kit. No referral and no insurance required.
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