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MFSD8 Gene Ceroid lipofuscinosis neuronal type 7 NGS Genetic Test

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MFSD8 Gene Ceroid lipofuscinosis neuronal type 7 NGS Genetic Test

Short Name: MFSD8 Gene CLN7 NGS Test

Also known as: Neuronal Ceroid Lipofuscinosis Type 7, CLN7 Disease, MFSD8-related NCL

MFSD8 Gene Ceroid lipofuscinosis neuronal type 7 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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 TestPediatric🏠 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 diagnose MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 through genetic analysis, aiding in clinical management and family counseling.

Test Code
1909
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
NGS (Next Generation Sequencing)
Step 1

Sample Collection

Genetic counseling recommended prior to testing.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw or FTA card collection procedure.

Step 3

Report Delivery

Sample stored at ambient temperature until analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss the implications of testing and obtain informed consent.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Results will be available in 3-4 weeks. Follow-up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 through genetic analysis, aiding in clinical management and family counseling.

How to Prepare

  • Use sterile techniques
  • Label samples properly
  • Transport at room temperature

Doctor's Notes

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

"Early genetic testing is crucial for managing neuronal ceroid lipofuscinosis type 7 and planning care, enabling timely symptomatic management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 48 hours
FTA cards stable for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted samples
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MFSD8 gene. A positive result confirms diagnosis of CLN7 disease, while a negative result may require further evaluation.
📊

Confirms diagnosis of MFSD8-related NCL. Carrier status for family members can be assessed.

Action: Genetic counseling and symptom management recommended.

📊

Further testing or family studies may be needed.

Action: Consult geneticist for guidance.

📊

CLN7 disease unlikely, but clinical correlation is essential.

Action: Consider other differential diagnoses.

⚠️ When to Consult a Doctor:

If symptoms of neuronal ceroid lipofuscinosis are present, or for genetic counseling regarding test results.

Limitations

  • ⚠May not detect all possible variants
  • ⚠Results should be interpreted in clinical context
  • ⚠Carrier status may require additional testing

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of test results
  • ●Potential for incidental findings

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7?
It is a rare genetic disorder affecting the nervous system, caused by mutations in the MFSD8 gene, leading to progressive neurological decline.
How is CLN7 disease diagnosed?
Diagnosis involves clinical evaluation, neuroimaging, and genetic testing such as the MFSD8 Gene NGS Genetic Test.
What are the symptoms of MFSD8-related NCL?
Symptoms include vision loss, seizures, developmental delays, muscle stiffness, and behavioral problems.
Is there a cure for CLN7 disease?
Currently, there is no cure. Treatment focuses on managing symptoms and improving quality of life.
What is the cost of the MFSD8 Gene NGS Genetic Test?
The test costs INR 20000 at DNA Labs India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test.
What if the test result is positive?
A positive result confirms the diagnosis. Genetic counseling and symptomatic management are recommended.
Is the test accurate?
NGS genetic testing is highly accurate for detecting mutations in the MFSD8 gene.
How can I book the test?
You can book online through DNA Labs India or call for assistance.
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

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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.

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