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Gaucher's Disease - Quantitative Blood Test

Gaucher's Disease - Quantitative Blood Test

Gaucher's disease is an inherited, genetic disorder resulting from a deficiency of an enzyme called glucocerebrosidase. This enzyme deficiency leads to the accumulation of certain specific fatty substances in organs, primarily the spleen and liver, causing these organs to enlarge and not function normally. Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids.

  • Test Name Gaucher's Disease - Quantitative Blood Test
  • Sample Type Blood
  • Preparations Required No specific fasting or dietary restrictions are required for this test.
  • Report Time 5 days

The quantitative blood test for Gaucher's disease is used to measure the amount of glucocerebrosidase in the blood, which aids in diagnosing this disorder. Genetic testing can also be used to confirm a diagnosis of Gaucher's disease.

Home Sample Collection Process

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Reporting of the sample at lab
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Frequently Asked Questions

Gaucher's disease is an inherited genetic disorder in which a specific type of fat called glucocerebroside accumulates in cells and certain organs due to deficiency of an enzyme called glucocerebrosidase.

This test helps to determine the levels of glucocerebrosidase in the blood, aiding in the diagnosis of Gaucher's disease. Early diagnosis and treatment can improve the quality of life and prognosis for individuals with this condition.

The test involves a simple blood draw. The blood sample is then sent to the lab for analysis.

Decreased levels of glucocerebrosidase enzyme in the blood may indicate Gaucher's disease. However, results should always be interpreted by a healthcare professional in the context of clinical symptoms and other diagnostic tests.

Your doctor will review the test results with you. If the test indicates you have Gaucher's disease, a treatment plan will be developed, which may include enzyme replacement therapy or substrate reduction therapy.

The risks associated with the blood test are minimal but may include slight pain or bruising at the injection site. There is also a small risk of infection.

The normal range for glucocerebrosidase enzyme levels can vary slightly among different laboratories. Your doctor will interpret your results based on the reference range for the lab that processed your test.

An abnormal test result should be discussed with a geneticist or a specialist in metabolic diseases.

No, fasting is not required for the Gaucher's disease quantitative blood test.

Symptoms that might warrant this test include an enlarged spleen or liver, bone pain or fractures, anemia, fatigue, or easy bruising.

This test is typically done when Gaucher's disease is suspected based on clinical symptoms. It is not a routine test and is not typically repeated unless necessary for treatment monitoring.

Certain medications may affect the results of the test. It's important to discuss all medications and supplements you are taking with your doctor prior to the test.

Since Gaucher's disease is a genetic condition, there are no modifiable lifestyle factors that can affect enzyme levels. The disease management can be improved with the right medication and treatment approach.

Non-modifiable factors include age, genetics, and the presence of other medical conditions.

No, this test requires a blood sample to be drawn by a healthcare professional and must be analyzed in a specialized laboratory.

The Gaucher's Disease Quantitative Blood Test is a valuable tool in diagnosing Gaucher's disease. Timely diagnosis and treatment can prevent complications, reduce symptoms, and enhance the quality of life for individuals with this condition. Always consult your doctor for a thorough medical evaluation and treatment options if you suspect you may have Gaucher's disease.

Gaucher's Disease - Quantitative blood
₹ 2400
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Locations Near You in Hyderabad
  • 4KM from Madhapur
  • 3KM from Banjara Hills
  • 1.9KM from Yusufguda
  • 3KM from Madhura Nagar
  • 5KM from Shaikpet