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HelpTest ID: GAUP Gaucher Disease, Mutation Analysis, GBA
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) Analysis
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 on the maternal specimen.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. CST on Friday in order to be processed appropriately.
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.
Specimen Stability Information: Ambient (preferred)/Refrigerated/Frozen
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 |
|---|---|---|
| Varies | Varies | |
Clinical Information
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
An interpretive report will be provided.
Interpretation
An interpretive report will be provided.
Clinical Reference
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
Day(s) and Time(s) Performed
Tuesday; 10 a.m.
Analytic Time
9 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 U.S. 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)
Fibroblast Culture for Genetic Test
88233-Tissue culture, skin or solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
Amniotic Fluid Culture/Genetic Test
88235-Tissue culture for amniotic fluid (if appropriate)
88240-Cryopreservation (if appropriate)
Maternal Cell Contamination, B
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 | 35693-1 |
| 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
1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions
2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
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