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Gaucher’s Disease Molecular DNA Assay Blood Test

Last updated March 30, 2016

What are other Names for this Test? (Equivalent Terms)

  • Gaucher Disease Molecular DNA Assay Blood Test
  • Gaucher’s Disease Genetic Blood Test
  • GD Molecular DNA Assay Blood Test

What is Gaucher’s Disease Molecular DNA Assay Blood Test? (Background Information)

  • Gaucher’s disease is a genetic disorder that affects mainly the liver and spleen. It is caused by a defect in the enzyme glucocerebrosidase (also known as beta-glucosylceramidase, or GBA)
  • Glucocerebrosidase is found in structures called lysosomes that are present in immune cells. Lysosomes destroy foreign invaders, such as bacteria and viruses, after they have been ingested by the immune cell
  • As its name suggests, glucocerebrosidase breaks down glucocerebroside (a type of fat molecule). However, in individuals with Gaucher’s disease, this enzyme is defective. This leads to a buildup of glucocerebroside
  • There are 3 types of Gaucher’s disease:
    • Type I: The most common type, it affects children and adults alike
    • Type II: Affects infants and young children
    • Type III: Affects infants, young children, and teenagers
  • The Gaucher’s Disease Molecular DNA Assay Blood Test helps detect mutations in the region of DNA that gives instructions for glucocerebrosidase, the GBA gene. It is used to diagnose Gaucher’s disease
  • There are 2 types of tests that may be performed:
    • Targeted mutation analysis: Scans for four common mutations; N370S, L444P, 84GG, and IVS2+1
    • Sequence analysis: Analyzes the entire GBA gene to identify rare mutations

What are the Clinical Indications for performing the Gaucher’s Disease Molecular DNA Assay Blood Test?

Following are the clinical indications for performing the Gaucher’s Disease Molecular DNA Assay Blood Test:

  • Family history of Gaucher’s disease
  • Enlarged spleen
  • Anemia
  • Fatigue
  • Bone and joint pain
  • Difficulty breathing

How is the Specimen Collected for Gaucher’s Disease Molecular DNA Assay Blood Test?

Following is the specimen collection process for Gaucher’s Disease Molecular DNA Assay Blood Test:

Sample required: Blood

Process of obtaining blood sample in adults:

  • A band is wrapped around the arm, 3-4 inches above the collection site (superficial vein that lies within the elbow pit)
  • The site is cleaned with 70% alcohol in an outward spiral, away from the zone of needle insertion
  • The needle cap is removed and is held in line with the vein, pulling the skin tight
  • With a small and quick thrust, the vein is penetrated using the needle
  • The required amount of blood sample is collected by pulling the plunger of the syringe out slowly
  • The wrap band is removed, gauze is placed on the collection site, and the needle is removed
  • The blood is immediately transferred into the blood container, which has the appropriate preservative/clot activator/anti-coagulant
  • The syringe and the needle are disposed into the appropriate “sharp container” for safe and hygienic disposal

Preparation required: No special preparation is needed prior to the test.

What is the Significance of the Gaucher’s Disease Molecular DNA Assay Blood Test Result?

  • Detection of a mutation in the GBA gene indicates a positive result for the Gaucher’s Disease Molecular DNA Assay Blood Test. It may indicate Gaucher’s disease

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • Certain factors interfere with the results of the Gaucher’s Disease Molecular DNA Assay Blood Test. These include DNA rearrangements, blood transfusions, and other rare genetic events

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

What are some Useful Resources for Additional Information?

The following DoveMed website link is a useful resource for additional information: http://www.dovemed.com/diseases-conditions/gaucher-disease-gd/

Please visit our Laboratory Procedures Center for more physician-approved health information:


References and Information Sources used for the Article:

Kee, J. L. (2010). Laboratory and diagnostic tests with nursing implications (8th ed.). Upper Saddle River, NJ: Pearson.

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Williamson, M. A., Snyder, L. M., & Wallach, J. B. (2011). Wallach's interpretation of diagnostic tests (9th ed.). Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins.

Helpful Peer-Reviewed Medical Articles:

Verma, J., Thomas, D. C., Kasper, D. C., Sharma, S., Puri, R. D., Bijarnia-Mahay, S., ... & Verma, I. C. (2016). Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

New, M. I., Tong, Y. K., Yuen, T., Jiang, P., Pina, C., Chan, K. A., ... & Chiu, R. W. (2014). Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. The Journal of Clinical Endocrinology & Metabolism, 99(6), E1022-E1030.

Sharma, R., Anguela, X. M., Doyon, Y., Wechsler, T., DeKelver, R. C., Sproul, S., ... & Zhou, S. (2015). In vivo genome editing of the albumin locus as a platform for protein replacement therapy. Blood, 126(15), 1777-1784.

Tiscornia, G., Vivas, E. L., Matalonga, L., Berniakovich, I., Monasterio, M. B., Eguizábal, C., ... & Ribes, A. (2013). Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. Human molecular genetics, 22(4), 633-645.

Pastores, G. M., & Hughes, D. A. (2015). Gaucher disease.

Pagana, K. D. (2013). Mosby's manual of diagnostic and laboratory tests. Elsevier Health Sciences.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: March 30, 2016
Last updated: March 30, 2016