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Neuronal Ceroid Lipofuscinosis Gene Panel
₹ 19400
Neuronal Ceroid Lipofuscinosis Gene Panel
₹ 19400 ₹ 19400

Neuronal Ceroid Lipofuscinosis Gene Panel

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Neuronal Ceroid Lipofuscinosis Gene Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Neuronal ceroid lipofuscinosis Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations causing neuronal ceroid lipofuscinosis and support diagnosis, management, and family risk assessment

What is the Neuronal Ceroid Lipofuscinosis Gene Panel?

The Neuronal Ceroid Lipofuscinosis Gene Panel is a genetic blood test used to diagnose neuronal ceroid lipofuscinosis, a group of inherited neurodegenerative disorders that primarily affect children. These conditions lead to progressive damage of brain cells, resulting in developmental regression, seizures, vision loss, and movement difficulties.

This test analyses multiple genes known to cause different forms of neuronal ceroid lipofuscinosis using advanced Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm a diagnosis, understand the disease subtype, and assess genetic risk for family members.

What Does the Neuronal Ceroid Lipofuscinosis Gene Panel Measure?

This genetic test looks for disease causing changes in genes involved in lysosomal function and neuronal health:

  • Detection of pathogenic variants linked to neuronal ceroid lipofuscinosis
  • Differentiation of NCL from other childhood neurodegenerative disorders
  • Identification of inherited risk for progressive neurological decline
  • Support for clinical diagnosis, prognosis assessment, and care planning
  • Guidance for genetic counselling, family screening, and prenatal evaluation

Neuronal Ceroid Lipofuscinosis Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Neuronal Ceroid Lipofuscinosis Gene Panel?

Doctors may recommend this test if you or your child show symptoms such as:

  • Progressive loss of previously acquired developmental skills
  • Recurrent seizures that worsen over time
  • Gradual vision loss or blindness in childhood
  • Movement difficulties, poor coordination, or muscle stiffness
  • Behavioural changes or cognitive decline

Who Should Get a Neuronal Ceroid Lipofuscinosis Gene Panel?

  • Children with suspected inherited neurodegenerative disorders
  • Individuals with symptoms suggestive of neuronal ceroid lipofuscinosis
  • Patients with unexplained progressive epilepsy and vision problems
  • Individuals with a family history of NCL
  • Couples with known genetic risk planning a pregnancy

Why is a Neuronal Ceroid Lipofuscinosis Gene Panel Done?

The test helps confirm the genetic cause of neuronal ceroid lipofuscinosis, allowing accurate diagnosis, appropriate management planning, and informed family counselling.

Importance of the Neuronal Ceroid Lipofuscinosis Gene Panel

Early genetic diagnosis of neuronal ceroid lipofuscinosis is essential for appropriate medical care, supportive therapy, and family planning. This gene panel enables precise identification of the disease subtype, helps avoid unnecessary investigations, supports symptom management strategies, and provides clarity on prognosis and disease progression.

Neuronal Ceroid Lipofuscinosis Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Neuronal Ceroid Lipofuscinosis Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Neuronal Ceroid Lipofuscinosis Gene Panel, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
  5. Quick and Easy Reports
    Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Neuronal Ceroid Lipofuscinosis Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Neuronal Ceroid Lipofuscinosis Gene Panel. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

How Long Does It Take to Get a Neuronal Ceroid Lipofuscinosis Gene Panel Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Neuronal Ceroid Lipofuscinosis Gene Panel Results?

  1. Metropolis Healthcare website or mobile app
    You can access your test results through the Metropolis Healthcare website or mobile app by logging in with your credentials.
  2. Email or WhatsApp
    Reports are also shared via email or WhatsApp.
  3. Physical copy from the lab
    You may collect a physical copy directly from the Metropolis Lab if required.

Interpreting Neuronal Ceroid Lipofuscinosis Gene Panel Results

What Your Neuronal Ceroid Lipofuscinosis Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
NCL related genes No disease causing variant detected Neuronal ceroid lipofuscinosis with progressive neurodegeneration Symptoms may be due to other genetic or neurological conditions

Understanding Abnormal Neuronal Ceroid Lipofuscinosis Gene Panel Test Results

Gene Group What a Pathogenic Variant May Indicate
CLN genes Classic forms of neuronal ceroid lipofuscinosis with age related onset
PPT1 and TPP1 Lysosomal enzyme deficiencies causing early onset NCL
ATP13A2, GRN Atypical or later onset neurodegenerative NCL variants

How Should You Prepare for a Neuronal Ceroid Lipofuscinosis Gene Panel?

This genetic test requires minimal preparation. Keep these points in mind before your appointment:

  • No fasting required: You can eat and drink normally unless advised otherwise by your doctor
  • Normal hydration: Maintain your usual fluid intake
  • Medication information: Inform your doctor about all medicines or supplements you are taking
  • Clinical history: Share relevant neurological symptoms and family history
  • Consent and forms: Ensure the test requisition form and genetic history details are completed

How Is a Neuronal Ceroid Lipofuscinosis Gene Panel Done? (Step-by-Step Procedure)

The test is performed using a simple blood collection process:

  • Preparation: A tourniquet is tied around your arm to make veins more visible.
  • Cleaning: The puncture site is cleaned with antiseptic.
  • Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer.
  • Completion: The needle is removed, and a bandage is applied.
  • Processing: The sample is analysed using Next Generation Sequencing to identify gene mutations linked to neuronal ceroid lipofuscinosis.

Conditions That May Affect Neuronal Ceroid Lipofuscinosis Gene Panel Accuracy

Certain patient related factors may influence test interpretation:

  • Recent blood transfusion may affect genetic analysis
  • Incomplete or incorrect clinical history can limit interpretation
  • Mosaic genetic changes may be harder to detect in some cases
  • Variants of uncertain significance may require additional family studies

Diseases That a Neuronal Ceroid Lipofuscinosis Gene Panel Can Help Detect

  • Neuronal ceroid lipofuscinosis
  • Infantile, late infantile, juvenile, and adult onset NCL subtypes
  • Inherited lysosomal storage disorders affecting the nervous system

References

  1. Mole S.E., Williams R.E., Goebel H.H. (2011). The neuronal ceroid lipofuscinoses (Batten disease). Oxford University Press. PMID: 21357127
  2. Williams R.E., Mole S.E. (2012). New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology, 79(2), 183–191. PMID: 22764262
  3. Schulz A., Kohlschütter A., Mink J., Simonati A., Williams R. (2013). NCL diseases clinical perspectives. Biochimica et Biophysica Acta, 1832(11), 1801–1806. PMID: 23684574
  4. Haltia M. (2006). The neuronal ceroid lipofuscinoses: From past to present. Biochimica et Biophysica Acta, 1762(10), 850–856. PMID: 16979385
  5. Santavuori P., Lauronen L., Kirveskari E., Aberg L., Sainio K. (2000). Neuronal ceroid lipofuscinoses in childhood. Neurological Sciences, 21(4), S35–S41. PMID: 11465938
  6. Cotman S.L., Staropoli J.F. (2012). The juvenile neuronal ceroid lipofuscinosis protein CLN3. Molecular Genetics and Metabolism, 107(4), 687–693. PMID: 23046517

Frequently asked questions

Find quick answers to the most common questions about health tests, bookings, and reports.

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Ratings & Reviews

We're satisfying our customers every day since 1980.

Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

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  • Real-time tracking of phlebotomist arrival and report generation
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  • Dedicated support team to resolve any delays or queries quickly

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Metropolis has been present for over 40 years in the market.

Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.

In diagnostic services, we have more than three decades of experience servicing diverse stakeholders health advantage packages for men, women and seniors, genetic fitness & corporation in over 650+ tests like Oncology, Neurology, Gynaecology, Haematology, and many more. Our diagnostic services are located in leading doctors and clinics and serve over 15+ cities in India.

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