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Lab Test

Niemann Pick Disease - Quantitative - Blood (Sphingomyelinase deficiency)

Niemann-Pick disease is a group of rare, inherited disorders characterized by the accumulation of sphingomyelin, a type of lipid, within cells. These lipid accumulations can cause a variety of symptoms and complications, depending on the specific type of Niemann-Pick disease an individual has. There are currently three recognized types of Niemann-Pick disease - Types A, B, and C - each associated with its unique clinical presentation.


  • Profile Name: Niemann Pick Disease - Quantitative - Blood (Sphingomyelinase deficiency)
  • Sample Type: Blood
  • Preparations Required: No special preparation is needed for this test. Continue your usual diet, drinking, and medication unless instructed otherwise by your healthcare provider.
  • Report Time: 5 days

The Quantitative Blood Test for Niemann-Pick disease specifically screens for Types A and B, both of which are associated with a deficiency in the enzyme sphingomyelinase. This enzyme is responsible for breaking down sphingomyelin into other substances that the body can use. If sphingomyelinase is deficient or absent, sphingomyelin accumulates within cells, leading to the various manifestations of Niemann-Pick disease.

Home Sample Collection Process
1
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Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
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Frequently Asked Questions

This test involves drawing a blood sample from the patient, which is then analyzed in the laboratory for the presence and activity level of the sphingomyelinase enzyme. Low levels of this enzyme suggest a diagnosis of Niemann-Pick disease Type A or B.

The turnaround time for the Niemann Pick Disease Quantitative Blood Test is typically 5-10 days, although this can vary depending on the specific laboratory.

A deficiency in the enzyme sphingomyelinase leads to the accumulation of sphingomyelin in cells, specifically in the cells of the spleen, liver, lungs, bone marrow, and in some cases, brain. This accumulation can lead to cell dysfunction and the various symptoms associated with Niemann-Pick disease.

The symptoms of Niemann-Pick disease vary widely and depend on the specific type. Symptoms may include enlargement of the liver and spleen, lung disease, low platelet count, growth retardation, and neurological problems such as learning difficulties, loss of motor skills, and seizures. Type A, which is the more severe form, typically involves severe neurodegeneration and early death, while Type B usually presents with systemic symptoms but no neurodegeneration.

Currently, there is no cure for Niemann-Pick disease. Treatment primarily focuses on managing symptoms and improving the quality of life. This can include physical therapy, respiratory therapy, medications to control specific symptoms, and supportive care. Research is ongoing to find more effective treatments, including enzyme replacement therapy and gene therapy.

Testing for Niemann-Pick disease is typically recommended for individuals with a family history of the disease, those with symptoms suggestive of the disease, and certain populations with a higher incidence of the disease, such as individuals of Ashkenazi Jewish descent.

A deficiency in the enzyme sphingomyelinase suggests a diagnosis of Niemann-Pick disease Type A or B. However, further testing will be required to confirm the diagnosis and determine the specific type.

Coverage for the Niemann Pick Disease Quantitative Blood Test can vary depending on the insurance provider and plan. Most insurance companies may cover this test if it is deemed medically necessary by a healthcare provider. It's always best to check with your insurance company to understand your coverage.

No special preparation is needed for the Niemann Pick Disease Quantitative Blood Test. Continue your usual diet, drinking, and medication unless instructed otherwise by your healthcare provider.

As the Niemann Pick Disease Quantitative Blood Test involves a blood draw, there are minimal risks involved, such as slight pain or bruising at the site of the needle prick. There is also a very small risk of infection.

The Niemann Pick Disease Quantitative Blood Test is considered a reliable method for detecting sphingomyelinase deficiency associated with Niemann-Pick disease Type A and B. However, further testing will be needed to confirm the diagnosis and distinguish between the two types.

Yes, you can usually take your medications as usual before this test. However, certain medications may affect the test results, so it's important to inform your healthcare provider about any medications you're taking.

Certain medications and medical conditions may affect the results of the Niemann Pick Disease Quantitative Blood Test. Make sure to inform your healthcare provider about all your current medications and any medical conditions you have.

If your test results show a sphingomyelinase deficiency, your healthcare provider will likely recommend additional testing to confirm the diagnosis and determine the specific type of Niemann-Pick disease. They will also discuss next steps in terms of treatment and management of the disease.

The Niemann Pick Disease Quantitative Blood Test is typically used for initial diagnosis rather than monitoring the progress of the disease. Other tests and clinical evaluations may be used to monitor disease progression and the effectiveness of treatments.

The frequency of this test will depend on the individual's circumstances. For someone with a known diagnosis of Niemann-Pick disease, this test may not be regularly repeated as it's primarily used for diagnosis. For someone with a family history of the disease or suggestive symptoms, the healthcare provider will guide the frequency based on their clinical judgment.

For most individuals, the Niemann Pick Disease Quantitative Blood Test is a one-time requirement for diagnostic purposes. However, in some cases, it may need to be repeated to confirm the diagnosis or in response to changes in the patient's symptoms or clinical condition.

No, the Niemann Pick Disease Quantitative Blood Test requires a blood draw, which needs to be done by a trained healthcare professional. The test should be conducted in a healthcare facility or laboratory.

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