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MYO5A Gene Griscelli syndrome type 1 NGS Genetic Test

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MYO5A Gene Griscelli syndrome type 1 NGS Genetic Test

Short Name: Griscelli Syndrome Type 1 NGS Test

Also known as: Griscelli Syndrome Type 1 Genetic Test, MYO5A Gene Mutation Analysis

MYO5A Gene Griscelli syndrome type 1 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Griscelli Syndrome Type 1 by detecting pathogenic mutations in the MYO5A gene using Next Generation Sequencing.

Test Code
4953
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

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

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or finger-prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

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 for NGS analysis.
3
After the Test:Report generation and genetic counseling session.

About This Test

Who Should Get This Test

To diagnose Griscelli Syndrome Type 1 by detecting pathogenic mutations in the MYO5A gene using Next Generation Sequencing.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for MYO5A gene mutations is crucial for confirming Griscelli Syndrome Type 1, enabling early intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Ambient temperatureUp to 7 days
RefrigeratedUp to 30 days
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MYO5A gene. Positive results confirm Griscelli Syndrome Type 1, while negative results may require further testing.
Positive: Pathogenic variant detected – confirms diagnosis
Negative: No pathogenic variants – does not rule out other genetic causes
Variant of uncertain significance – requires further evaluation
⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or if genetic testing results are positive, consult a geneticist or dermatologist for management.

Limitations

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

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●No significant risks associated with genetic testing

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during sample processing
  • ●Insufficient DNA yield

Frequently Asked Questions

What is Griscelli Syndrome Type 1?
Griscelli Syndrome Type 1 is a rare genetic disorder caused by mutations in the MYO5A gene, affecting skin, hair, and immune system, leading to silvery hair, pale skin, and neurological issues.
What causes Griscelli Syndrome Type 1?
It is caused by autosomal recessive mutations in the MYO5A gene, which impairs intracellular transport of melanin and immune cell function.
What are the symptoms of Griscelli Syndrome Type 1?
Symptoms include silver-gray hair in infancy, pale skin, neurological problems like seizures or intellectual disability, and increased susceptibility to infections.
How is Griscelli Syndrome Type 1 diagnosed?
Diagnosis involves clinical examination, family history, and genetic testing such as the MYO5A Gene NGS Genetic Test to identify mutations.
What is the MYO5A Gene NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the MYO5A gene for mutations to confirm Griscelli Syndrome Type 1.
How much does the test cost in India?
The test costs INR 20000 at DNA Labs India, with potential variations based on location and services.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Positive results confirm Griscelli Syndrome Type 1, negative results may indicate no mutations, and variants of uncertain significance require further evaluation.
Is genetic testing necessary for Griscelli Syndrome?
Yes, genetic testing is essential for accurate diagnosis, management, and genetic counseling for families.
Can this test be done for prenatal diagnosis?
Prenatal testing may be possible through genetic counseling, but it depends on specific circumstances and should be discussed with a healthcare provider.
What should I do if the test is positive?
Consult a geneticist or dermatologist for management options, genetic counseling, and to discuss treatment and family planning.
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.

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✓ 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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