Test Catalog

Test ID: GAUP    
Gaucher Disease, Mutation Analysis, GBA, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirmation of a suspected clinical diagnosis of Gaucher disease


Carrier testing for individuals of Ashkenazi Jewish ancestry or who have a family history of Gaucher disease


Prenatal diagnosis of Gaucher disease in at-risk pregnancies

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Mutations tested for include N370S, IVS2(+1)G->A, 84GG, R496H, L444P, delta55bp, V394L, and D409H.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.


See Newborn Screen Follow-up for Gaucher Disease in Special Instructions.


For more information, see Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase in Special Instructions.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Gaucher disease is a relatively rare lysosomal storage disorder resulting from a deficiency of beta-glucocerebrosidase. Mutations within the beta-glucocerebrosidase gene (GBA) cause the clinical manifestations of Gaucher disease. There are 3 major types of Gaucher disease: nonneuropathic (type 1), acute neuropathic (type 2), and subacute neuropathic (type 3). Type 1 Gaucher disease occurs most frequently and is the presentation commonly found among Ashkenazi Jewish patients. The carrier rate of Gaucher disease in the Ashkenazi Jewish population is 1 in 18.


Type 1 disease does not involve nervous system dysfunction; patients display anemia, low blood platelet levels, massively enlarged livers and spleens, lung infiltration, and extensive skeletal disease. The clinical variability in type 1 disease is large, with some patients exhibiting severe disease and others very mild disease.


Eight GBA mutations, including the N370S mutation found most commonly in the Ashkenazi Jewish population, are included in this test: delta 55bp, V394L, N370S, IVS2+1, 84GG, R496H, L444P, and D409H. This testing panel provides a 95% detection rate for the Ashkenazi Jewish population and up to a 60% detection rate for the non-Ashkenazi Jewish population. Alternatively, full gene sequencing is available to evaluate for mutations in all coding regions and exon/intron boundaries of the GBA gene by ordering GBAZ / Gaucher Disease, Full Gene Analysis.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This assay will not detect all of the mutations that cause Gaucher disease. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with this disease.


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.


Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.


In rare cases, DNA alterations of undetermined significance may be identified.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Beutler E, Grabowski GA: Glucosylceramide lipidoses: Chapter 146: Gaucher disease. In The Metabolic Basis of Inherited Disease. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw-Hill Book Company, 1994

2. Gaucher Disease, Current Issues in Diagnosis and Treatment. Technology Assessment Conference Program and Abstracts, National Institutes of Health, Bethesda, MD, February 27-March 1, 1995

3. Charrow J, Andersson HC, Kaplan P, et al: The Gaucher Registry: Demographics and disease characteristics of 1,698 patients with Gaucher Disease. Arch Int Med 2000;160:2835-2843

4. Gross SJ, Pletcher BA, Monaghan KG: Carrier screening individuals of Ashkenazi Jewish descent. Genet Med 2008;10(1):54-56

Special Instructions Library of PDFs including pertinent information and forms related to the test