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MLPH Gene Griscelli syndrome type 3 NGS Genetic Test

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MLPH Gene Griscelli syndrome type 3 NGS Genetic Test

Short Name: Griscelli Type 3 Genetic Test

Also known as: Griscelli syndrome type 3, MLPH-related Griscelli syndrome, Griscelli syndrome, type 3

MLPH Gene Griscelli syndrome type 3 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the MLPH gene to confirm a diagnosis of Griscelli Syndrome Type 3, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.

Test Code
4954
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

No specific preparation required. Provide clinical history and undergo genetic counseling if recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss the implications of testing. Provide detailed clinical and family history.
2
During the Test:The test involves a simple blood draw. The process is quick and minimally invasive.
3
After the Test:Results will be available in 3 to 4 weeks. Follow up with your healthcare provider for result interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the MLPH gene to confirm a diagnosis of Griscelli Syndrome Type 3, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details
  • Transport the sample at ambient temperature as specified

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for Griscelli Syndrome Type 3 is crucial for accurate diagnosis and management. Early detection can help in preventing severe infections and guiding treatment options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample: Stable for 48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate whether pathogenic mutations in the MLPH gene are detected, which confirm Griscelli Syndrome Type 3. Consult a genetic specialist for comprehensive interpretation.
Positive: Pathogenic variant detected - confirms diagnosis, recommend clinical management and genetic counseling
Negative: No pathogenic variant detected - does not completely rule out the condition if clinical suspicion remains, consider other tests
Variant of uncertain significance (VUS) - further testing or family studies may be needed
⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibit symptoms such as hypopigmentation, recurrent infections, or developmental delays, especially with a family history of genetic disorders.

Limitations

  • ⚠May not detect all genetic variants or deep intronic mutations
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

  • ●Slight pain or bruising at the needle site
  • ●Rare risk of infection or fainting
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Recent blood transfusions

Frequently Asked Questions

What is Griscelli Syndrome Type 3?
Griscelli Syndrome Type 3 is a rare genetic disorder caused by mutations in the MLPH gene, leading to hypopigmentation and immunodeficiency.
What causes Griscelli Syndrome Type 3?
It is caused by mutations in the MLPH gene, which is involved in pigment transport in the body.
What are the symptoms of Griscelli Syndrome Type 3?
Symptoms include light skin, silvery hair, recurrent infections, delayed development, and enlarged liver and spleen.
How is Griscelli Syndrome Type 3 diagnosed?
Diagnosis is confirmed through genetic testing, such as the MLPH Gene NGS Genetic Test, which identifies mutations in the MLPH gene.
What is the cost of the MLPH Gene Griscelli Syndrome Type 3 NGS Genetic Test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available for this test?
Yes, free home sample collection is available across many cities in India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test detect all mutations in the MLPH gene?
While NGS technology is comprehensive, it may not detect all possible variants, such as deep intronic mutations.
What should I do if the test results are positive?
Consult a genetic specialist or healthcare provider for interpretation, management options, and genetic counseling.
Is genetic counseling recommended before taking the test?
Yes, genetic counseling is advised to understand the implications, benefits, and limitations of the test.
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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