Carrier screening or diagnostic testing for GD in individuals of non-Ashkenazi Jewish descent.
Polymerase Chain Reaction/Sequencing
Lavender (K2 or K3 EDTA) or Pink (K2 EDTA). Also acceptable: Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months
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.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|3001649||GBA FGS- Specimen||31208-2|
|3001650||GBA FGS Interpretation||46988-2|
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