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Lab Test

Palmitoyl Protein Thioesterase - Leucocytes, (Lipofuscinosis) - Blood

The Palmitoyl Protein Thioesterase - Leucocytes, (Lipofuscinosis) - Blood test measures the activity of the enzyme palmitoyl protein thioesterase in your blood. This enzyme is involved in the breakdown of certain fats in the body. Deficiency of this enzyme can lead to a rare genetic disorder known as neuronal ceroid lipofuscinosis (NCL), specifically Infantile NCL, also known as Batten disease.


  • Profile Name: Palmitoyl Protein Thioesterase - Leucocytes, (Lipofuscinosis) - Blood
  • Sample Type: Blood
  • Preparations Required: No fasting is required for this test. Continue your normal diet and hydration levels unless otherwise instructed by your doctor.
  • Report Time: 2-3 weeks

Understanding your palmitoyl protein thioesterase levels can be particularly useful if you or your child are experiencing symptoms of NCL, such as vision loss, developmental delay, seizures, and movement problems. It can also be helpful if you have a family history of NCL and are considering genetic counseling or testing.

Home Sample Collection Process

1
Book your convenient slot
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
Download Reports
Download Reports
Frequently Asked Questions

This test is important for diagnosing Infantile NCL, a rare genetic disorder. Early diagnosis can help manage symptoms, delay disease progression, and provide genetic counseling for families.

No, fasting is not required for this test. You can maintain your regular diet and hydration levels unless your doctor advises otherwise.

No specific preparation is needed for this test. However, it's important to inform your doctor about any medications or supplements you're taking as they may affect the test results.

This test is typically recommended if you or your child are experiencing symptoms of NCL, such as vision loss, developmental delay, seizures, and movement problems. It may also be recommended if you have a family history of NCL.

This test measures the activity of the enzyme palmitoyl protein thioesterase in your blood. Low levels of this enzyme can indicate Infantile NCL.

The frequency of this test depends on your individual circumstances and your doctor's recommendations. If you or your child are being monitored for NCL, your doctor may recommend regular testing to track disease progression.

Normal values can vary based on the laboratory conducting the test. However, your doctor will interpret your results considering your age, sex, and overall health status.

There are no specific precautions for this test. However, it's important to inform your doctor about any medications or supplements you're taking, as they may affect the test results.

The main factor that can affect the levels of palmitoyl protein thioesterase in your blood is the presence of Infantile NCL. This is a genetic condition, so your genetic makeup is the primary determinant of these levels.

If your test results are abnormal, you should consult a geneticist or a neurologist. These specialists can provide guidance on the next steps based on your test results and individual circumstances.

Yes, this testcan help diagnose Infantile NCL. Low levels of palmitoyl protein thioesterase in your blood can indicate this condition. However, additional genetic testing may be needed to confirm the diagnosis.

A low level of palmitoyl protein thioesterase in your blood can indicate Infantile NCL, a rare genetic disorder. This condition leads to the accumulation of certain fats in the body's tissues, causing a variety of symptoms including vision loss, developmental delay, seizures, and movement problems.

No, lifestyle changes are unlikely to affect the results of this test. The levels of palmitoyl protein thioesterase in your blood are primarily determined by your genetic makeup.

It's unlikely that medications will affect the results of this test. However, it's always important to inform your doctor about all the medications you're taking.

Yes, you can take this test if you're pregnant. However, it's important to inform your doctor about your pregnancy as it may affect the interpretation of the results.

Yes, children can undergo this test. In fact, this test is often used in children who are showing symptoms of NCL.

Yes, this test can be used to monitor the effectiveness of treatments for NCL. By measuring the levels of palmitoyl protein thioesterase in your blood, your doctor can assess your response to treatment.

While this test is primarily used to diagnose Infantile NCL, abnormal results may also suggest other health conditions that affect enzyme levels in the body. However, further testing would be needed to diagnose these conditions.

Yes, this test can be used in people with liver disease. However, the interpretation of results may be different, as liver disease can affect enzyme levels in the body.

Yes, this test can be used in people with kidney disease. However, the interpretation of results may be different, as kidney disease can affect enzyme levels in the body.

In conclusion, the Palmitoyl Protein Thioesterase - Leucocytes, (Lipofuscinosis) - Blood test is a valuable tool for diagnosing Infantile NCL and monitoring the effectiveness of treatment. Understanding the test and its implications can empower you to make informed decisions about your health. Always consult with your doctor for personalized advice based on your health status and test results.

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