Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Bloom Syndrome

Bloom Syndrome

Test Description:
Bloom syndrome (BS) is an autosomal recessive disorder characterized clinically by proportionate pre- and postnatal growth deficiency, sun-sensitive, telangiectatic, hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability. BS is more prevalent in the Ashkenazi Jewish population with a carrier frequency of approximately 1 in 134. The most common mutation in this population, termed Blm Ash, is a 6 bp deletion and 7 bp insertion in the BLM gene (c.2207_2212delATCTGAinsTAGATTC (2281del6/ins7)). Testing for this mutation identifies approximately 99% of Ashkenazi Jewish carriers of BS. The American College of Medical Genetics recommends that carrier screening for BS be offered to individuals with at least one grandparent of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.

1. Ellis, N.A. et. al. The Bloom’s syndrome gene product is homologous to RecQ helicases. Cell 83:655-666, 1995.
2. Scott, S.A., Edelmann, L., Liu, L., Luo, M., Desnick, R.J. and Kornreich, R. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish Genetic Diseases. Hum. Mutat. 31:1-11, 2010.

Specimen Requirements:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83892x2, 83898, 83912, 83914

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Jewish Genetic Screening Brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Test Panel

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.