Ordering Recommendation

Carrier screening or diagnostic testing for GD in individuals of non-Ashkenazi Jewish descent.

Mnemonic
GBA FGS
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Sun-Sat

Reported

2-3 weeks

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Lavender (K2 or K3 EDTA) or Pink (K2 EDTA). Also acceptable: Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months

Reference Interval
Interpretive Data

Background information for Gaucher Disease (GBA) Sequencing:
Characteristics:
Gaucher disease (GD) is a lysosomal storage disorder with phenotypes ranging from perinatal lethality to lack of symptoms. There are three GD subtypes. Type 1 GD manifests with bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease but no central nervous system (CNS) involvement. Type 2 GD exhibits CNS symptoms before age 2 and rapidly progresses resulting in death by age 4. Type 3 GD presents as early as age 2 with CNS symptoms that slowly progress resulting in death during the third or fourth decade.
Incidence:
1 in 900 Ashkenazi Jewish individuals; approximately 1 in 57,000 to 1 in 75,000 in general population.
Inheritance:
Autosomal recessive.
Cause:
Two pathogenic GBA variants on opposite chromosomes.
Clinical Sensitivity:
99 percent.
Methodology:
Long range PCR followed by bidirectional sequencing of all coding regions and intron-exon boundaries of the GBA gene.
Analytical Sensitivity and Specificity:
approximately 99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Regulatory region variants, deep intronic variants, large deletions/duplications/insertions, gene conversion and complex gene events may not be detected.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81479

Components
Component Test Code* Component Chart Name LOINC
3001649 GBA FGS- Specimen 31208-2
3001650 GBA FGS Interpretation 46988-2
* 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 (GBA) Sequencing