Beta Glucosidase Gaucher Test Cost & Procedure

Gaucher disease, a metabolic disorder caused by an absence of the enzyme beta-glucocerebrosidase, is characterized by the buildup of the fat molecule glucocerebroside in several tissues and organs.

The GBA gene, which is located on chromosome 1, contains the information needed to create the beta-glucocerebrosidase enzyme. The beta-glucocerebrosidase enzyme is stored in the GBA gene, which is located on chromosome Gaucher disease symptoms are brought on by mutations in the GBA gene that alter the enzyme's synthesis and activity, which results in insufficient glucocerebroside breakdown. Gaucher disease can be accurately diagnosed by measuring the blood's beta-glucocerebrosidase activity levels.

Performing a beta-glucocerebrosidase leukocyte (BGL) test involves:

• The beta-glucocerebrosidase activity in the blood is measured using the BGL test.
• A little sample of the patient's blood is taken, and it is examined at a lab.
• In 8 to 15 days, the results are normally made public.
• Gaucher disease is thought to exist if beta-glucocerebrosidase activity levels are less than 8.7 nmol/h/mg protein.
• An individual with one damaged copy of the GBA gene is said to be a carrier of Gaucher disease.
• Despite not having the illness themselves, they run the danger of passing it on to their offspring.
• Only when two defective copies of the GBA gene are present, one from each parent, does a person have Gaucher disease.
• In such cases, genetic testing to detect GBA gene mutations is advised because it is significantly more accurate and trustworthy.

Procedure:

• The procedure for drawing blood for the BGL test is typically straightforward, but in a small percentage of cases, it may result in the development of Gaucher disease in a person who has two defective copies of the GBA gene, one from each parent.
• In such cases, genetic testing to detect GBA gene mutations is advised because it is significantly more accurate and trustworthy.
• The BGL test blood draw is often straightforward, although it can occasionally result in complications like bleeding and infection.