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

Useful For

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

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No
CULAF Amniotic Fluid Culture/Genetic Test Yes No
MATCC Maternal Cell Contamination, B Yes No

Testing Algorithm

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.

Method Name

Polymerase Chain Reaction (PCR)

Reporting Name

Gaucher Disease, Mutation Analysis

Specimen Type


Additional Testing Requirements

All prenatal specimens must be accompanied by a maternal blood specimen. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.


Submit only 1 of the following specimens:


Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 2.6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4days/Refrigerated


Prenatal Specimen

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.


Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Type: Chorionic villi

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated



Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Specimen Minimum Volume

Blood: 0.5 mL
Amniotic Fluid: 10 mL
Chorionic Villi: 5 mg

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Gaucher disease is a relatively rare lysosomal storage disorder resulting from a deficiency of beta-glucocerebrosidase. Variants 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 variants, including the N370S variant 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 variants in all coding regions and exon/intron boundaries of the GBA gene by ordering GBAZ / Gaucher Disease, Full Gene Analysis, Varies.

Reference Values

An interpretive report will be provided.


An interpretive report will be provided.

Clinical Reference

1. Grabowski GA, Petsko GA, Kolodny EH: Gaucher disease. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed August 19, 2021. Available at

2. Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. JAMA. 1996 Feb 21;275(7):548-553

3. Charrow J, Andersson HC, Kaplan P, et al: The Gaucher registry: demographics and disease characteristics of 1,698 patients with Gaucher disease. Arch Intern Med. 2000 Oct 9;160(18):2835-2843

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

Day(s) Performed


Report Available

9 to 12 days

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81251-GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+IG>A)


88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88235-Tissue culture for amniotic fluid (if appropriate)

88240-Cryopreservation (if appropriate)

81265-Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing or maternal cell contamination of fetal cells (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GAUP Gaucher Disease, Mutation Analysis 35693-1


Result ID Test Result Name Result LOINC Value
53164 Result Summary 50397-9
53165 Result 82939-0
53166 Interpretation 69047-9
52428 Additional Information 48767-8
53167 Reason for Referral 42349-1
53168 Specimen 31208-2
53169 Source 31208-2
53170 Released By 18771-6


New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: