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DNAJC5 Gene Ceroid lipofuscinosis neuronal type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DNAJC5 Gene Ceroid lipofuscinosis neuronal type 4 NGS Genetic Test

Short Name: CLN4 NGS Genetic Test

Also known as: CLN4, Neuronal Ceroid Lipofuscinosis Type 4, DNAJC5-related disorder

DNAJC5 Gene Ceroid lipofuscinosis neuronal type 4 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 Reports available in 3 to 4 weeks.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To provide a definitive diagnosis of Ceroid Lipofuscinosis Neuronal Type 4 (CLN4) by identifying mutations in the DNAJC5 gene using next-generation sequencing technology, enabling appropriate treatment and genetic counseling.

Test Code
1913
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports available in 3 to 4 weeks.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session and clinical history review as per pre-test information.

Method: Venipuncture for blood, finger prick for FTA card

Step 2

Laboratory Analysis

Standard blood draw or finger prick for FTA card.

Step 3

Report Delivery

Sample is transported to the laboratory for DNA extraction and analysis.

Timeline: Reports available in 3 to 4 weeks.

Patient Instructions

1
Before the Test:Consultation with a geneticist or neurologist, genetic counseling, and review of clinical history.
2
During the Test:Sample collection via blood draw or FTA card, followed by laboratory processing.
3
After the Test:Wait for results for 3-4 weeks, then follow-up with healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To provide a definitive diagnosis of Ceroid Lipofuscinosis Neuronal Type 4 (CLN4) by identifying mutations in the DNAJC5 gene using next-generation sequencing technology, enabling appropriate treatment and genetic counseling.

How to Prepare

  • Avoid hemolysis in blood samples
  • Proper labeling of samples
  • Follow kit instructions for FTA cards

Doctor's Notes

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

"Early genetic testing for CLN4 is crucial for timely management and genetic counseling. It helps in confirming diagnosis, guiding family planning, and understanding disease progression."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood, finger prick for FTA card

Sample Stability

Blood sample stable at 2-8°C for 48 hours
FTA cards stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Incorrect sample type
  • Missing patient information

Understanding Your Results

Results are interpreted by identifying variants in the DNAJC5 gene. Pathogenic variants confirm diagnosis of CLN4, while negative results may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of CLN4. Genetic counseling and management planning recommended.

📊

No pathogenic variant

CLN4 unlikely but not ruled out if clinical suspicion is high. Consider other diagnoses.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms such as seizures, vision loss, or developmental regression are present, or if there is a family history of neuronal ceroid lipofuscinosis, consult a geneticist or neurologist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results, such as anxiety or distress

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Insufficient sample volume

Compare With Similar Tests

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ComparisonDNAJC5 Gene Ceroid lipofuscinosis neuronal type 4 NGS Genetic Test

Frequently Asked Questions

What is the DNAJC5 Gene CLN4 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to identify mutations in the DNAJC5 gene, which causes CLN4, a rare neurological disorder.
Who should consider this test?
Individuals with symptoms like seizures, vision loss, or developmental regression, or those with a family history of CLN4, should consider this test.
What are the symptoms of CLN4?
Symptoms include seizures, loss of muscle control, visual impairment, behavioral changes, dementia, and speech problems, typically starting in childhood.
How is the test performed?
The test requires a blood sample or extracted DNA, which is analyzed in a lab using NGS technology to detect DNAJC5 gene variants.
What is the cost of the test?
The cost is INR 20000 in India, which includes sample collection, analysis, and report generation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms the presence of pathogenic variants in the DNAJC5 gene, indicating a diagnosis of CLN4.
What if the result is negative?
A negative result means no pathogenic variants were detected, but CLN4 may still be possible if clinical suspicion is high; further evaluation may be needed.
Are there any risks to the test?
The test involves minimal risks from blood draw, such as bruising, but genetic results may have psychological impacts.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to help understand the results and implications.
How accurate is the test?
NGS-based testing is highly accurate for detecting genetic variants, but accuracy depends on sample quality and lab standards; DNA Labs India uses accredited laboratories.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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