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.
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.
|Component Test Code*||Component Chart Name||LOINC|
|3001649||GBA FGS- Specimen||31208-2|
|3001650||GBA FGS Interpretation||46988-2|
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