Ordering Recommendation

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

New York DOH Approval Status

This test is New York state approved.

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. Frozen specimens in glass collection tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Methodology

Polymerase Chain Reaction (PCR), Fluorescence Monitoring

Performed

Varies

Reported

5-10 days

Reference Interval

By report

Interpretive Data

Refer to report

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

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81251

Components

Component Test Code* Component Chart Name LOINC
0051440 Gaucher Disease (GBA), Allele 1 46988-2
0051441 Gaucher Disease (GBA), Allele 2 46988-2
0051442 Gaucher Disease (GBA), Interpretation 35693-1
2001312 Gaucher Disease (GBA), Specimen 31208-2
* 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
Gaucher Disease (GBA), 8 Variants