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- 2281del6ins7 Mutation
- Jewish Heritage Test
- Sister Chromatid Exchange
Identification of carrier and affected individuals for the 2281del6ins7 mutation associated with Bloom syndrome in the Ashkenazi Jewish population. Prenatal testing is available.
This test only detects the 2281del6ins7 mutation that is responsible for Bloom syndrome in the Ashkenazi Jewish population.1 This test is not appropriate for non-Ashkenazi Jewish individuals.
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis
Bloom syndrome (OMIM 210900) is a rare autosomal recessive disorder that is characterized by small stature, photosensitivity, chromosomal instability, immunodeficiency, and a predisposition to develop multiple cancers.1,2 In the Ashkenazi Jewish population, the carrier frequency is approximately 1 in 104 individuals.2
Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit
3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs
Maintain specimen at room temperature or refrigerate.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab