Gaucher Disease (GBA) 8 Mutations
Ordering Recommendation
Diagnostic testing for Gaucher disease.  Carrier screening for Gaucher disease.
Polymerase Chain Reaction/Primer Extension
Tue, Thu
7-10 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
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report
Interpretive Data
Background information for Gaucher Disease (GBA) 8 Mutations:
Lysosomal storage disease with extreme symptomatic variability from lack of symptoms to perinatal lethality. Three subtypes have been described based on their characteristics. Type 1 has bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease but no primary CNS disease. Type 2 has CNS onset before age two and progresses rapidly to death by age four. Type 3 may have onset by age two but is slowly progressive, resulting in death usually in one's 20's or 30's.
1 in 900 Ashkenazi Jewish individual;, unknown in other ethnicities.
Autosomal recessive.
PathogenicGBA gene mutations.
Mutations Tested:
c.115+1G>A, p.L29Afs (c.84dupG), p.N409S (c.1226A>G), c.1263_1319del55, 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; at least 55 percent in other ethnicities.
Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Mutations other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.

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

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.
CPT Code(s)
Component Test Code*Component Chart NameLOINC
0051440Gaucher Disease (GBA) 8 Mut, Allele 146988-2
0051441Gaucher Disease (GBA) 8 Mut, Allele 246988-2
0051442Gaucher Disease (GBA) 8 Mut, Interp35693-1
2001312Gaucher Disease (GBA) 8 Mut, 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.
  • Beta-glucocerebrosidase deficiency
  • Beta-Glucosidase
  • Gaucher Disease