Neuronal Ceroid Lipofuscinosis Gene Panel Test: Booking, Price, and Results
About Neuronal Ceroid Lipofuscinosis Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | NCL Gene Panel, Batten Disease Gene Panel, CLN Gene Panel |
| Sample Type | Chorionic villus (CVS), amniotic fluid, or peripheral blood (EDTA tube) |
| Fasting Required | No |
| Report Time | 35 days |
| Recommended For | All ages; primarily children and young adults with suspected NCL; also for carrier testing in at-risk family members |
| Price | Starting at ₹21,600 |
What is a Neuronal Ceroid Lipofuscinosis Gene Panel Test?
The Neuronal ceroid lipofuscinosis gene panel test is a specialised genetic test that detects disease-causing changes in genes linked to neuronal ceroid lipofuscinosis (NCL), a group of inherited disorders affecting the brain and nervous system. Also called the NCL gene panel or Batten disease gene panel, it is prescribed when a doctor suspects NCL based on a patient's symptoms or family history. The test uses next-generation sequencing (NGS), a method that reads large sections of DNA at once, and is performed on a blood, chorionic villus, or amniotic fluid sample.
What Does a Neuronal Ceroid Lipofuscinosis Gene Panel Test Measure?
This test analyses multiple genes known to cause NCL. Mutations in any of these genes can disrupt normal cell function and lead to the build-up of waste material in the brain and nerve cells. The table below lists the key genes examined.
| Gene | What it Does |
|---|---|
| PPT1 (CLN1) | Produces an enzyme that breaks down fatty substances inside cells |
| TPP1 (CLN2) | Produces an enzyme that helps dispose of proteins in cellular waste compartments |
| CLN3 | Main cause of classic juvenile NCL (Batten disease) |
| CLN5 | Involved in the function of lysosomes (cellular waste compartments) |
| CLN6 | Encodes a protein in the endoplasmic reticulum, a cell structure that processes proteins |
| CLN8 | Involved in lipid transport across cell membranes |
| MFSD8 (CLN7) | Encodes a transporter protein within lysosomes |
| CTSD (CLN10) | Produces cathepsin D, a digestive enzyme in lysosomes |
| ATP13A2 | Involved in metal ion transport within cells |
| CTSF | Produces cathepsin F enzyme |
| DNAJC5 | Associated with adult-onset NCL |
| GRN | Encodes progranulin, a protein important for nerve cell survival |
| KCTD7 | Involved in cell signalling |
| SGSH | Supports lysosomal enzyme function |
Why is a Neuronal Ceroid Lipofuscinosis Gene Panel Test Done?
A doctor may order this test when a patient shows signs consistent with NCL or when a family history of the condition is identified. The test helps confirm or rule out a diagnosis and can identify whether family members carry a relevant genetic variant.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to request a Neuronal ceroid lipofuscinosis gene panel test:
- Progressive loss of vision
- Recurrent seizures (epilepsy)
- Gradual decline in memory and thinking ability
- Worsening movement control and coordination
- Regression in development in children
- Behavioural or personality changes
Conditions This Test Can Help Detect
This panel can help identify the following NCL subtypes and related conditions:
- CLN1 disease (Infantile NCL, also known as Santavuori-Haltia disease)
- CLN2 disease (Late infantile NCL, also known as Jansky-Bielschowsky disease)
- CLN3 disease (Juvenile NCL, also known as classic Batten disease)
- CLN4 disease (Adult NCL, also known as Kufs disease)
- Other NCL subtypes, including CLN5 through CLN14
How to Prepare and What to Expect
Preparation for this test is straightforward, but bringing the right documentation and information is important for accurate interpretation.
Do You Need to Fast?
No fasting is required before this test. You can eat and drink normally on the day of sample collection.
Practical Tips Before Your Test
Keep the following points in mind before attending your appointment:
- Bring a detailed clinical history, including symptoms, previous test results, and family history, as this is required for the test
- Pre-test genetic counselling is recommended; speak to your doctor or a genetic counsellor before proceeding
- Inform your doctor of any recent blood transfusions or bone marrow transplants, as these can affect DNA results
- Ensure you are well hydrated before the blood draw for easier sample collection
- Carry any previous neurological reports, imaging results, or specialist letters
Step-by-Step Procedure
The Neuronal Ceroid Lipofuscinosis Gene Panel Test procedure involves the collection of one or more sample types. Below are the steps for each.
For peripheral blood collection:
- A trained phlebotomist cleans the inner elbow with an antiseptic wipe.
- A small quantity of blood (3 ml) is drawn into a lavender-top EDTA tube.
- The tube is labelled with the patient's name, date of birth, and the date of collection.
- The sample is stored at 2 to 8 degrees Celsius and dispatched to the laboratory.
- Specialised laboratory staff extract DNA and perform next-generation sequencing.
- A clinical geneticist reviews the findings and prepares the report.
For chorionic villus (CVS) collection:
- A doctor collects a small tissue sample (30 mg) from the chorionic villi under clinical supervision.
- The sample is placed in a sterile white container and labelled appropriately.
- It is stored at 2 to 8 degrees Celsius and transported promptly to the laboratory.
- DNA is extracted from the tissue and sequenced using NGS.
For amniotic fluid collection:
- A doctor performs amniocentesis, drawing 20 ml of amniotic fluid using a specialised Falcon tube.
- The labelled sample is refrigerated and dispatched to the laboratory without delay.
- The laboratory processes the sample and performs the gene panel analysis.
Factors That Can Affect Accuracy
The following factors may affect the reliability of your results:
- Recent blood transfusions or allogeneic transplants (donor DNA can interfere with the patient's own DNA)
- History of chronic lymphocytic leukaemia (CLL)
- Poor sample quality or insufficient DNA yield
- Incorrect sample labelling or storage
- Very rare mutations deep within the DNA sequence that standard NGS may not detect
Understanding Your Neuronal Ceroid Lipofuscinosis Gene Panel Test Results
Results from this test fall into distinct categories. A doctor or genetic counsellor will explain what the findings mean for the patient and their family. The table below outlines the general interpretation framework.
| Result Category | Meaning |
|---|---|
| No pathogenic variants detected | Significantly reduces the likelihood of NCL, though very rare mutations may still go undetected |
| Pathogenic or likely pathogenic variant found | A disease-causing mutation identified; confirms or strongly supports an NCL diagnosis |
| Variant of uncertain significance (VUS) | A genetic change found, but its impact on health is not yet clear; further correlation may be needed |
| Benign or likely benign variant | A genetic change that is not considered disease-causing |
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Blood samples cannot be used for patients who have had an allogeneic transplant (such as a bone marrow or peripheral stem cell transplant) or who have a history of chronic lymphocytic leukaemia, as donor DNA may be present and distort results. Additionally, the causative gene for the CLN9 subtype has not yet been identified, so this form cannot currently be confirmed by genetic testing alone.
How to Maintain Healthy Levels
NCL is a genetic condition, and there are no lifestyle changes that can prevent or alter the underlying gene variants. General guidance for families includes:
- Seek genetic counselling if NCL or a related variant has been identified in your family
- Encourage at-risk family members to consider carrier testing
- Maintain regular follow-up with a neurologist and genetic counsellor for clinical monitoring
Lupin Diagnostics Neuronal Ceroid Lipofuscinosis Gene Panel Test Price
The Neuronal ceroid lipofuscinosis gene panel test cost at Lupin Diagnostics starts at ₹21,600. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 21600 |
| CHENNAI | 21600 |
| HYDERABAD | 21600 |
| KOLKATA | 21600 |
| NAVI MUMBAI | 21600 |
| PUNE | 21600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your Neuronal Ceroid Lipofuscinosis Gene Panel Test online or at a centre:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
Neuronal ceroid lipofuscinosis (NCL) refers to a group of inherited disorders in which a waste substance called ceroid lipofuscin builds up in the cells of the brain and retina. This causes progressive decline in brain function, vision, and movement. NCL conditions are collectively known as Batten disease.
This test is appropriate for individuals showing symptoms associated with NCL, such as seizures, vision loss, or progressive cognitive decline. It is also recommended for family members of a person with a confirmed NCL diagnosis to check for carrier status or early disease risk.
This test can be performed on peripheral blood collected in an EDTA tube, chorionic villus tissue, or amniotic fluid, depending on the clinical situation. Your doctor will advise which sample type is most appropriate for your case.
The report turnaround time for the Neuronal Ceroid Lipofuscinosis Gene Panel Test at Lupin Diagnostics is 35 days. Complex cases may take additional time depending on the findings.
This test is not part of routine prenatal screening. However, if a disease-causing variant has already been identified in a family, prenatal testing using chorionic villus or amniotic fluid samples is possible for pregnancies considered to be at increased risk. Genetic counselling before pregnancy is advisable for at-risk individuals.
Finding a pathogenic variant confirms or strongly supports a diagnosis of a specific NCL subtype. It also has implications for other family members. Post-test genetic counselling will help clarify the diagnosis, guide clinical management, and inform decisions about family planning.
Yes. A detailed clinical history, including symptoms, family history, and previous test results, is required for this test. This information helps the laboratory and clinical geneticist interpret the findings accurately in the context of the patient's overall health picture.
Neuronal Ceroid Lipofuscinosis Gene Panel Test: Booking, Price, and Results
