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GNPTG Gene Mucolipidosis type 3 gamma NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GNPTG Gene Mucolipidosis type 3 gamma NGS Genetic Test

Short Name: Mucolipidosis Type 3 Gamma NGS Test

Also known as: Mucolipidosis III Gamma, GNPTG Gene Disorder

GNPTG Gene Mucolipidosis type 3 gamma 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.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Mucolipidosis Type 3 Gamma by detecting mutations in the GNPTG gene using NGS technology.

Test Code
4731
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

Clinical history and genetic counseling session recommended.

Method: Venipuncture for blood or FTA card for one drop blood

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and counseling.

About This Test

Who Should Get This Test

To diagnose Mucolipidosis Type 3 Gamma by detecting mutations in the GNPTG gene using NGS technology.

How to Prepare

  • Ensure proper sample labeling
  • Follow aseptic techniques
  • Store sample at appropriate temperature

Doctor's Notes

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

"This genetic test is crucial for early diagnosis of Mucolipidosis Type 3 Gamma, enabling timely management, family planning, and 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 requirement
Collection MethodVenipuncture for blood or FTA card for one drop blood

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GNPTG gene.
📊

Positive for pathogenic mutation

Confirms diagnosis of Mucolipidosis Type 3 Gamma. Genetic counseling and management recommended.

📊

Negative for pathogenic mutation

No mutations detected. Clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms of Mucolipidosis Type 3 Gamma are present, or if there is a family history of the disorder.

Limitations

  • May not detect all possible mutations
  • Results require clinical correlation
  • Genetic counseling recommended

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of results

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Technical errors in sequencing

Frequently Asked Questions

What is Mucolipidosis Type 3 Gamma?
Mucolipidosis Type 3 Gamma is a rare genetic disorder caused by mutations in the GNPTG gene, affecting multiple organs with symptoms like delayed development, stiff joints, and sensory impairments.
What causes Mucolipidosis Type 3 Gamma?
It is caused by mutations in the GNPTG gene, which leads to deficient enzyme activity and accumulation of substances in cells.
What are the symptoms of Mucolipidosis Type 3 Gamma?
Symptoms include delayed speech and motor development, stiff joints, developmental regression, visual and hearing loss, hepatosplenomegaly, skeletal abnormalities, and coarse facial features.
How is Mucolipidosis Type 3 Gamma diagnosed?
Diagnosis is typically through genetic testing, such as the GNPTG Gene NGS Genetic Test, to identify mutations in the GNPTG gene.
What is the GNPTG Gene Mucolipidosis Type 3 Gamma NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the GNPTG gene for mutations to diagnose Mucolipidosis Type 3 Gamma.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, including sample collection and report generation.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What does a positive result mean?
A positive result confirms the presence of pathogenic mutations in the GNPTG gene, indicating Mucolipidosis Type 3 Gamma. Genetic counseling is recommended.
What does a negative result mean?
A negative result means no pathogenic mutations were detected. Clinical correlation is advised if symptoms persist.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling services to help understand test results and implications for health and family.
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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