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CLN5 Gene Ceroid lipofuscinosis neuronal type 5 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CLN5 Gene Ceroid lipofuscinosis neuronal type 5 NGS Genetic Test

Short Name: CLN5 Gene NGS Test

Also known as: CLN5 disease, Neuronal ceroid lipofuscinosis type 5, CLN5 NCL, Finnish variant of NCL

CLN5 Gene Ceroid lipofuscinosis neuronal type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 by detecting mutations in the CLN5 gene using Next-Generation Sequencing (NGS) technology, aiding in clinical management and genetic counseling.

Test Code
1907
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Patient should provide a detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card application

Step 2

Laboratory Analysis

Sample is collected via venipuncture for blood or using an FTA card for a blood drop, following standard aseptic techniques.

Step 3

Report Delivery

Sample is labeled, stored at ambient room temperature, and transported to the laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session and collection of clinical history are required before sample collection.
2
During the Test:Blood sample is drawn and processed for DNA extraction and NGS analysis in the laboratory.
3
After the Test:Results are available in 3 to 4 weeks and delivered via online portal, email, or WhatsApp. Follow-up with a genetic counselor is advised.

About This Test

Who Should Get This Test

To diagnose CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 by detecting mutations in the CLN5 gene using Next-Generation Sequencing (NGS) technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Avoid hemolysis during blood collection
  • Use sterile collection tubes or FTA cards
  • Ensure proper labeling of samples

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for CLN5 gene mutations is essential for families with a history of neuronal ceroid lipofuscinosis to enable timely management and informed genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirements
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA Card application

Sample Stability

Blood samples stable for 24 hours at room temperature
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the CLN5 Gene NGS Genetic Test indicate the presence or absence of mutations in the CLN5 gene, helping confirm or rule out CLN5 disease.
📊

Confirms diagnosis of CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5. Genetic counseling recommended for family planning and management.

📊

CLN5 disease is unlikely, but clinical correlation is needed. Consider other genetic tests if symptoms persist.

⚠️ When to Consult a Doctor:

If you experience symptoms such as seizures, vision loss, or cognitive decline, or have a family history of neuronal ceroid lipofuscinosis, consult a neurologist or genetic specialist for evaluation and possible testing.

Limitations

  • May not detect all possible variants in the CLN5 gene
  • Results require interpretation by a genetic counselor or clinician
  • Cannot rule out other genetic disorders

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Potential emotional impact from genetic diagnosis

Interfering Factors

  • Hemolyzed blood sample
  • Contaminated DNA
  • Insufficient sample volume

Compare With Similar Tests

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ComparisonCLN5 Gene Ceroid lipofuscinosis neuronal type 5 NGS Genetic Test

Frequently Asked Questions

What is CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5?
It is a rare genetic disorder affecting the nervous system, caused by mutations in the CLN5 gene, leading to progressive neurological symptoms such as seizures, vision loss, and cognitive decline.
How is the CLN5 Gene NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA extracted from a blood sample or FTA card, identifying mutations in the CLN5 gene with high accuracy.
What is the cost of the CLN5 Gene NGS Test in India?
The CLN5 Gene NGS Genetic Test costs INR 20,000 at DNA Labs India. This includes home collection, genetic counselling, NGS analysis, and report generation.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection. Reports are delivered via online portal, email, or WhatsApp.
Is home sample collection available for this test?
Yes, free home collection is offered for online bookings in numerous cities across India, including Mumbai, Delhi, Bangalore, Chennai, Hyderabad, and more.
What are the main symptoms of CLN5 disease?
Symptoms include seizures, loss of muscle coordination (ataxia), vision loss, cognitive decline, speech difficulties, and behavioral changes, usually beginning in childhood and progressing over time.
Can this test be used for carrier screening?
The test is primarily for diagnostic purposes in symptomatic individuals. Carrier screening may require specific genetic counseling and targeted panel testing.
What should I do before taking the test?
Provide a detailed clinical history, attend a genetic counseling session to discuss family history, and follow any pre-test instructions given by your healthcare provider.
How accurate is the NGS genetic test for CLN5?
NGS technology is highly accurate for detecting known and novel mutations in the CLN5 gene. However, results should always be interpreted by a qualified genetic specialist or genetic counselor.
Is the CLN5 Gene NGS Test covered by insurance?
Coverage depends on your insurance policy. This test is not universally covered. It is advisable to check with your insurance provider and also inquire about government schemes like PMJAY, CGHS, or ECHS.
What happens if the test result is positive?
A positive result confirms CLN5 disease. You should consult a neurologist and genetic counselor to discuss management options, supportive therapies, and family planning implications.
Can this test diagnose other types of neuronal ceroid lipofuscinosis?
No, this test is specific to CLN5 gene mutations. Other types of neuronal ceroid lipofuscinosis, such as type 3 or type 6, require testing for their respective genes like CLN3 or CLN6.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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