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.