Gaucher Disease, DNA-13558
3/20/2023: This test order is currently unavailable. To order a referred alternate, place a MSO order for LabCorp (482370) GeneSeq PLUS
Test info
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).
This assay will detect carriers of Gaucher disease in the Ashkenazi Jewish population
Specimen
Immediately following collection, mix sample thoroughly by gentle inverting 8 - 10 times, to prevent clotting
Lavender (EDTA), 10mL
Amniotic fluid
Chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing)
ACD whole blood
Yellow ACD (A or B)
Amniotic fluid or Chorionic villus sample (CVS)
Sterile vial/container
Chorionic villus sample (CVS) - 20 mg (minimum 10 mg)
ACD whole blood
Yellow ACD (A or B)
Amniotic fluid or Chorionic villus sample (CVS)
Sterile vial/container
Molecular Medicare billing request
Hospital clients submitting a reqeust for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request along with the sample
- Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
- All information requested is required in order for your request to be completed
Ambient
- Frozen specimen
- Hemolysis
- Quantity not sufficient for analysis (QNS)
- Improper container
Performance
If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis for eight mutations in the glucocerebrosidase gene.
Clinical and Interpretive info
An interpretive report will be provided
Enzyme testing is the preferred test to detect affected individuals. DNA testing may be used to confirm affected status. 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.
Billing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.
- Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
- All information requested is required in order for your request to be completed