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DNA Labs India

MCOLN1 Gene Mucolipidosis type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MCOLN1 Gene Mucolipidosis type 4 NGS Genetic Test

Short Name: ML4 NGS Genetic Test

Also known as: Mucolipidosis type IV, ML4, Mucolipidosis IV

MCOLN1 Gene Mucolipidosis type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

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 diagnose Mucolipidosis type 4 by identifying mutations in the MCOLN1 gene using next-generation sequencing technology, aiding in clinical management and genetic counseling.

Test Code
2182
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 Technology
Step 1

Sample Collection

Genetic counseling recommended to discuss implications and obtain informed consent.

Method: Venipuncture for blood, or FTA card collection

Step 2

Laboratory Analysis

Blood draw by phlebotomist or collection on FTA card as per protocol.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory for analysis under controlled conditions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss risks, benefits, and implications of testing, along with informed consent.
2
During the Test:Sample collection (blood or FTA card) and processing in the laboratory using NGS technology.
3
After the Test:Report generation, delivery through online portal/email/WhatsApp, and post-test counseling to discuss results.

About This Test

Who Should Get This Test

To diagnose Mucolipidosis type 4 by identifying mutations in the MCOLN1 gene using next-generation sequencing technology, aiding in clinical management and genetic counseling.

How to Prepare

  • No fasting required
  • Use sterile collection equipment
  • Ensure proper sample labeling
  • Follow standard blood collection protocols

Doctor's Notes

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

"Genetic testing for Mucolipidosis type 4 is crucial for early diagnosis, management, and informed family planning."

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, or FTA card collection

Sample Stability

Blood: Stable at 4°C for up to 24 hours
FTA Card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Clotted or hemolyzed blood
  • Improper labeling or documentation
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MCOLN1 gene associated with Mucolipidosis type 4.
📊

Positive for pathogenic variants

Diagnosis of Mucolipidosis type 4 is likely. Clinical correlation and genetic counseling recommended.

📊

Negative for pathogenic variants

No disease-causing mutations detected in the MCOLN1 gene. However, symptoms may be due to other causes, so clinical evaluation is advised.

📊

Variant of uncertain significance (VUS)

A genetic variant was identified but its pathogenicity is unclear. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist, neurologist, or metabolic specialist if symptoms of ML4 are present, or for family planning if there is a history of the disorder.

Limitations

  • ⚠May not detect all mutation types (e.g., deep intronic variants)
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for genetic discrimination, though legal protections exist

Interfering Factors

  • ●Sample degradation
  • ●Contamination during collection
  • ●Hemolysis in blood samples
  • ●Improper sample storage

Compare With Similar Tests

TestMCOLN1 Gene Mucolipidosis type 4 NGS Genetic TestWhole Exome SequencingMLPA for MCOLN1Lysosomal Storage Disorders Panel
ComparisonMCOLN1 Gene Mucolipidosis type 4 NGS Genetic TestBroader analysis covering multiple genes, but higher cost and longer turnaround time.Detects large deletions or duplications in the gene, complementary to NGS.Tests multiple genes associated with lysosomal disorders, useful for differential diagnosis.

Frequently Asked Questions

What is Mucolipidosis type 4 (ML4)?
ML4 is a rare genetic disorder affecting the nervous system and other organs, caused by mutations in the MCOLN1 gene.
What causes ML4?
ML4 is caused by mutations in the MCOLN1 gene, which impairs cellular waste breakdown, leading to accumulation of materials in cells.
What are the common symptoms of ML4?
Symptoms include developmental delays, intellectual disability, vision and hearing problems, movement disorders, and digestive issues.
How is ML4 diagnosed?
Diagnosis involves clinical evaluation, imaging studies, and genetic testing such as NGS to identify MCOLN1 gene mutations.
What is the MCOLN1 Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the MCOLN1 gene to detect mutations causing ML4.
How much does the test cost at DNA Labs India?
The test costs INR 20,000, which includes home sample collection and genetic counseling.
Is the test painful or risky?
The test involves a blood draw, which is minimally invasive with negligible risks like bruising.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the test results mean?
Results can be positive (pathogenic variants found), negative (no variants), or uncertain, requiring clinical correlation.
Can ML4 be treated or cured?
There is no cure for ML4, but management focuses on symptomatic treatment and supportive care to improve quality of life.
Is genetic counseling provided with the test?
Yes, DNA Labs India offers genetic counseling to help interpret results and guide decision-making.
How do I book the MCOLN1 Gene NGS Test?
You can book online through DNA Labs India's website, with free home sample collection available in many cities across India.
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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