The Palmitoyl Protein Thioesterase 1 (PPT1) test measures the activity or presence of the PPT1 enzyme in heparinized blood to help diagnose neuronal ceroid lipofuscinosis (NCL), particularly CLN1 disease. This rare genetic disorder affects the nervous system, and early detection is essential for timely management and genetic counseling. The test supports clinicians in evaluating suspected neurodegenerative symptoms in children or adults.
Price:
Rs. 5,880.00
Sample Type: HEPARIN BLOOD
Fasting Not Required
Booking Procedure:
- Technician from Metropolis will be assigned for a home sample collection after booking confirmation.
- Sample will be collected by our technician at your address at given slot.
- You can make the payment to the technician at the time of collection
- Your sample will then be transported to the nearest collection center and will be centrifuged before sending to the lab for processing.
- Soft copy reports will be sent to your email address within 24 to 48 hours or as per defined TAT for Tests.
Frequently Asked Questions (FAQ's):
What does the Palmitoyl Protein Thioesterase 1 test measure?
It assesses PPT1 enzyme levels to help identify disorders such as CLN1-type neuronal ceroid lipofuscinosis.
Who should consider taking this test?
Patients—often children—with unexplained developmental regression, seizures, or suspected neurodegenerative disorders.
How is the sample collected?
A blood sample is drawn into a heparin tube for specialized enzyme analysis.
Can this test confirm CLN1 disease?
Low PPT1 activity strongly supports the diagnosis but may be followed by genetic testing for confirmation.
Is genetic testing recommended alongside this test?
Yes, genetic testing helps identify specific mutations and provides clearer diagnostic guidance.
Does medication affect the test results?
Typically no, but your clinician may review your medication history for interpretation accuracy.
Is fasting required for the PPT1 test?
No fasting is required.
How long does it take to receive the results?
Results are generally available within the standard turnaround time for enzyme assays.