Gaucher Disease, DNA

Alphabetical Test listing

Gaucher Disease, DNA-13558

Gaucher Disease, DNA

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

EDTA whole blood
7 mL
3.0 mL

Lavender (EDTA), 10mL

ACD whole blood
Amniotic fluid
Chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing)

Yellow ACD (A or B)


Amniotic fluid or Chorionic villus sample (CVS) - Sterile vial/container

10 mL Amniotic fluid - 10mL (minimum 5mL);Chorionic villus sample (CVS) - 20 mg (minimum 10 mg)

Whole blood - Yellow ACD (A or B)

Amniotic fluid or Chorionic villus sample (CVS) - Sterile vial/container


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  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis (QNS)
  • Improper container
LabCorp RTP (511048): R-LC
2X per wk, or as needed
9 - 15 days
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.


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.

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
Result 41104-1