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HelpTest 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.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR)
Reporting Name
Gaucher Disease, Mutation AnalysisSpecimen Type
VariesAdditional 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
Container/Tube:
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
Acceptable:
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.
Interpretation
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 https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225546056
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
Tuesday
Report Available
9 to 12 daysTest 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 |
Forms
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:
mml-inherited-molecular