Chitotriosidase Storage Disorder Plasma

This test measures the levels of chitotriosidase in your blood plasma. Chitotriosidase is important for breaking down certain materials within cells. Elevated levels may indicate conditions like Gaucher's disease, a genetic disorder affecting organ function.

The test helps:

• To confirm diagnoses of Gaucher's disease.
• To monitor Gaucher's patients undergoing treatment.
• To assess markers for specific lysosomal storage disorders, aiding in their management and treatment.

The Chitotriosidase Storage Disorder Plasma test is:

• Recommended for diagnosing or monitoring Gaucher's disease.
• Suitable for patients showing symptoms like enlarged liver or spleen, bone pain, or fractures.
• Advisable if there is a history of genetic lysosomal storage disorders.

If the test results are abnormal then:

• Suggestive of underlying lysosomal storage disorders like Gaucher's disease.
• Results should be discussed with your doctor for further evaluation and appropriate management.

During the test, you will have 6 ml of heparin plasma collected;

• This involves a simple blood draw
• A small needle will be used to draw blood into a tube.
• The process usually takes only a few minutes and is well-tolerated by most individuals.

Before your test:

• Drink plenty of water.
• Avoid strenuous exercise before the test.
• Follow any additional instructions provided by your healthcare provider.

Other tests often ordered alongside this test are:

• Genetic Testing: To confirm specific genetic mutations related to storage disorders
• Liver Function Tests: To evaluate overall liver health and function
• Bone Marrow Biopsy: To assess bone marrow involvement in lysosomal storage disorders

Chitotriosidase Assay or Gaucher Disease Marker Test

Gaucher's disease is an inherited disorder where the body accumulates fatty substances called glucocerebrosides within cells due to insufficient chitotriosidase activity. This accumulation can lead to organ enlargement, bone issues, fatigue, and anemia, among other symptoms.