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This assay will detect carriers of Gaucher disease in the Ashkenazi Jewish population. Enzyme testing is the preferred test to detect affected individuals. DNA testing may be used to confirm affected status.
To determine affected status, biochemical testing is recommended. This assay detects ∼95% of the mutations responsible for Gaucher disease type I and 50% to 60% of types II and III (childhood and juvenile onset) in the Ashkenazi Jewish population. Seventy-five percent of mutations in non-Jewish Caucasians are also detected. The frequency of the various glucocerebrosidase mutations can vary significantly between different ethnic groups. Since this analysis does not detect all mutations, results must be combined with clinical information for the most accurate interpretation. This test is not appropriate for determining affected status for childhood/juvenile onset disease.
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis for eight mutations in the glucocerebrosidase gene. The mutations tested include: N370S (A1226G), L444P (C1448T), D409H (G5957C), V395L (5912T), 84GG (G-GG), IVS2+1 (insA), R496H (G1604A), and 55 bp deletion (C1263del).
Gaucher disease (OMIM 230800) is an autosomal recessive disorder caused by a decrease in the levels of the enzyme glucocerebrosidase. Decreased levels of glucocerebrosidase can result in visceral changes, such as organomegaly and thrombocytopenia, and skeletal changes, such as bone lesions. There are three subtypes of Gaucher disease. Type 1 is the most common subtype. Individuals affected with type 1 may have onset of symptoms in adolescence, though some remain asymptomatic well into adulthood. Type 1 is effectively treated through enzyme replacement therapy.
Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit
3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs
Maintain specimen at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab