Bloom Syndrome Carrier Testing

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.