Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Gaucher Disease

Gaucher Disease

Test Description:
Gaucher disease (GD) is an autosomal recessive disorder caused by deficient activity of the lysosomal enzyme beta-glucosidase (GBA gene). The cardinal features of Gaucher disease are hematologic abnormalities with hypersplenism, bone lesions, skin pigmentation, and pingueculae. The disease is prevalent in the Ashkenazi Jewish population with a carrier frequency of 1 in 15. Although the p.N409S (N370S), mutation is by far the most common, p.L483P (L444P), c.84dupG (84GG), c.115+1G>A (IVS2+1G>A), c.1263_1317del (del55bp), p.V433L (V394L), p.D448H (D409H), p.R535H (R496H) mutations are also included. These eight mutations account for approximately 95% of GD carriers of Ashkenazi Jewish descent, and 60-70% of non-Jewish carriers for the disorder. The American College of Medical Genetics recommends that carrier screening for FA be offered to individuals with at least one grandparent of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.

1. Beutler E, Gelbart W, Kuhl J. Gorge, West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci USA 88:10544-10547, 1991.
2. Balicki D, Beutler E. Gaucher disease. Medicine 74:305-323, 1995.
3. 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, 83900, 83912, 83914x6

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.