LabCorp and its Specialty Testing Group, a fully integrated portfolio of specialty and esoteric testing laboratories.

Gaucher Disease Mutation Analysis



Test Includes

Mutation(s) include:
c.84dupG (p.L29fs) (legacy name: 84GG (G insertion));
 c.115+1G>A (legacy name: IVS2+1G>A);
 c.1226A>G (p.N409S) (legacy name: 1226G (N370S));
c.1297G>T (p.V433L) (legacy name: V394L);
c.1342G>C (p.D448H) (legacy name: D409H); 
c.1448T>C (p.L483P) (legacy name: 1448C (L444P)); 
c.1604G>A (p.R535H) (legacy name: 1604A (R496H);
c.1265_1319del55 (p.L422fs) 

Special Instructions

Prenatal testing: Integrated Genetics clients should call 800-848-4436 to speak to a laboratory genetic coordinator before collecting any specimens.   In some circumstances, specimens from other family members may be required. 


All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for analysis of possible maternal cell contamination. 


Discard first 2 mL; then 10 mL amniotic fluid in 15 mL orange-top polypropylene tube, 10-15 mg chorionic villi in laboratory-provided screw-top tubes with sterile transport medium or one T-25 flask of confluent cells. 


Additional sample must be obtained for back-up culture at one of our cytogenetics laboratories or another facility.  If additional testing is desired, more amniotic fluid is needed. For example, chromosome analysis requires an additional 15-25 mL (see Cytogenetics – Amniotic Fluid Chromosome Analysis test page) and AFAFP requires an additional 2 mL (see Amniotic Fluid Alpha-Fetoprotein - AFAFP test page). 

Specimen Requirements


Whole blood or mouthwash (see specimen kit for detailed instructions),  amniotic fluid, chorionic villi.


Postnatal:  10 mL whole blood or mouthwash
Prenatal:  10 mL amniotic fluid in orange-top polypropylene tube, 10-15 mg chorionic villi in laboratory provided screw-top tubes with sterile transport medium or one T-25 flask of confluent cells 


Lavender-top (EDTA) tube or yellow-top (ACD-A) tube or mouthwash kit


Mouthwash collection:  Patient should not eat, drink, smoke or chew gum for at least one hour prior to collection. (See specimen kit for detailed instructions). 

Mouthwash samples can be sent when ordering up to two tests. When ordering more than two tests, blood samples are required.  10 mL of Scope® mouthwash that has been swished vigorously for at least 1 minute. Collect in orange-top 50 mL polypropylene tube. 

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen

Test Details


Gaucher disease occurs at an increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of 1 in 15. It is a lysosomal storage disorder with variable severity that, if untreated, may result in anemia, hepatosplenomegaly, nosebleeds and fractures. In the more severe and rare form, the brain and nervous system are involved.

Please Note: While we offer enzyme testing as a standalone test, we strongly recommend that clients opt for both DNA and enzyme testing.


False positive or false negative results may occur for reasons that include: genetic variants, technical handling, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships.


Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis

Pregnancy Week

0–13 Weeks
14–21 Weeks
22+ Weeks

Additional Information

Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out if they are carriers and at risk of having a baby with Gaucher disease. It is standard of care to offer carrier screening to individuals of Ashkenazi Jewish descent for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomiaFanconi anemia group C, Gaucher disease, mucolipidosis type IV, Niemann-Pick disease type A and Tay-Sachs disease. If both parents are found to be carriers, prenatal diagnosis by CVS or amniocentesis is available. Indications for Gaucher disease testing include: Individuals with a family history or clinical characteristics of Gaucher disease. Our Gaucher disease mutation analysis tests for 5 mutations for a 95% carrier detection rate in the Ashkenazi Jewish population. Indications for diagnostic/presymptomatic testing for Gaucher disease include: clinical characteristics of Gaucher disease and/or family history of Gaucher disease.



If you’re a healthcare provider, you’re in the right place. If you’re a current or future patient, click the link below.