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&gtA (IVS2+1G&gtA), 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 or during pregnancy.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


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

Post Natal:

Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).


Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: two confluence T-25 flasks

Additionally, please send:

5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Ordering Information


Send at room temperature.

Turnaround Time:

10-14 days

CPT Code:


Forms and Brochures

Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel