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Gaucher Disease (GBA), 8 Variants
0051438
Ordering Recommendation

Carrier screening or diagnostic testing for Gaucher disease for individuals of Ashkenazi Jewish descent.

Mnemonic
GBA
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Tue, Fri
Reported
5-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month 
Reference Interval
By report
Interpretive Data
Background information for Gaucher Disease (GBA), 8 Variants:
Characteristics:
Gaucher disease affects lysosomal storage and has extreme symptom variability, ranging from perinatal lethality to asymptomatic individuals. Three Gaucher subtypes have been identified based on symptom characteristics. Type 1 is characterized by bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease. Individuals with Type 1 disease do not have primary central nervous system (CNS) involvement. Type 2 is characterized by CNS symptoms displaying before age 2, which progresses rapidly resulting in death by age 4. In Type 3 disease, individuals may present as early as age 2 with display CNS symptoms. However, Type 3 disease progresses slowly, usually resulting in death during the third or fourth decade of life.
Incidence:
1 in 900 in Ashkenazi Jewish individuals.
Inheritance:
Autosomal recessive.
Cause:
GBA pathogenic variants.
Variants Tested:
c.115+1G>A, p.L29Afs (c.84dupG), p.N409S (c.1226A>G), c.1263_1317del55, p.V433L (c.1297G>T), p.D448H (c.1342G>C), p.L483P (c.1448T>C), and p.R535H (c.1604G>A).
Clinical Sensitivity:
90 percent in Ashkenazi Jewish individuals; 55 percent in other ethnicities.
Methodology:
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Limitations:
Variants other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81251
Components
Component Test Code*Component Chart NameLOINC
0051440Gaucher Disease (GBA), Allele 146988-2
0051441Gaucher Disease (GBA), Allele 246988-2
0051442Gaucher Disease (GBA), Interpretation35693-1
2001312Gaucher Disease (GBA), Specimen31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Beta-glucocerebrosidase deficiency
  • Beta-Glucosidase
  • Gaucher Disease