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Bloom Syndrome Carrier Testing

  • Direct-to-consumer lab testing; No doctor referral or insurance necessary

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About Our Bloom Syndrome Carrier Testing

Note: Fasting is not required for this test.

This blood test is used for identification of carrier and affected individuals for the "2281del6ins7" mutation associated with Bloom syndrome in the Ashkenazi Jewish population.

Bloom syndrome is a rare autosomal recessive disorder that is characterized by small stature, photosensitivity, chromosomal instability, immunodeficiency, and a predisposition to develop multiple cancers. In the Ashkenazi Jewish population, the carrier frequency is approximately 1 in 104 individuals.


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