Bloom syndrome is a disorder caused by the disrupted function of a protein necessary for maintaining the integrity of the genome. This leads to DNA instability and chromosomal breaks and rearrangements.
Bloom syndrome is rare, but has been reported in many ethnic groups. It has the highest prevalence in people of Ashkenazi Jewish heritage whose ancestors were from Poland or the Ukraine. It affects 1 out of every 40,000 – 50,000 people of Ashkenazi Jewish heritage.
Take this test to find out whether you are a genetic carrier for Bloom syndrome and are at risk of passing a BLM variant to your children.
This test detects the rs113993962 (2281del6/ins7) variant in the BLM gene. This gene provides instructions for the RECQL3 enzyme involved in repairing damaged DNA. Individuals with Bloom syndrome do not produce functional RECQL3 protein, therefore cannot effectively repair DNA damage.
Bloom syndrome is an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the BLM gene for symptoms to occur. Individuals with just one defective BLM gene are unaffected carriers, but can pass the disease-causing variant to the next generation.
Signs and Symptoms
- Smaller than normal at birth, and remain shorter than normal as they grow
- High-pitched voice
- Long, narrow face accompanied by a reddish facial rash
- Prominent nose and ears
- Undersized jaw
- Frequent infections
- Extreme sun sensitivity
- Very high risk of many types of cancer
- Men are infertile; women experience menopause unusually early
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.