Gaucher Disease (GBA), 8 Variants
Ordering Recommendation

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

Polymerase Chain Reaction/Fluorescence Monitoring
Tue, Fri
5-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. 
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month 
Reference Interval
By report
Interpretive Data
Background information for Gaucher Disease (GBA), 8 Variants:
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.
1 in 900 in Ashkenazi Jewish individuals.
Autosomal recessive.
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.
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Variants other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
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.
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