Lab test

Bloom Syndrome Carrier Test - Ashkenazi Jew

This test identifies carriers and affected individuals for Bloom syndrome by analyzing the specific BLM gene mutation known as 2281del6ins7.

Typical price

From $149

Results

1-3 business days

Preparation

See preparation notes below

Sample

Blood draw or sample collection at a local center

This test identifies carriers and affected individuals for Bloom syndrome by analyzing the specific BLM gene mutation known as 2281del6ins7. Bloom syndrome is a rare inherited condition associated with growth and immune concerns that is more common in people of Ashkenazi Jewish descent. Carriers usually have no symptoms but can pass the mutation to a child. Clinicians order it for reproductive planning and family-risk assessment.

• BLM gene mutation (2281del6ins7) The specific genetic variant analyzed to identify Bloom syndrome carriers and affected individuals.

• People of Ashkenazi Jewish descent planning a pregnancy.
• Individuals with a family history of Bloom syndrome.
• Couples considering reproductive carrier screening.
• People with a partner known to be a Bloom syndrome carrier.
• Anyone with symptoms prompting evaluation for a chromosomal instability condition.

• No fasting is required for Bloom syndrome carrier testing.
• Take usual medications unless told otherwise.
• Share family history and reproductive plans.
• A blood or saliva sample may be used.
• Genetic counseling is advised before and after testing.

Detection of the 2281del6ins7 BLM mutation can indicate carrier status, while certain patterns may indicate an affected individual. Carriers usually have no symptoms but can pass the mutation to a child if both partners are carriers. Because results can have family-planning implications, review them with a genetic counselor. Discuss the findings with a healthcare provider and genetic counselor.

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