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DNA Labs India

GNAQ Gene Developmental delay, GNAQ related NGS Genetic Test

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GNAQ Gene Developmental delay, GNAQ related NGS Genetic Test

Short Name: GNAQ NGS Test

Also known as: GNAQ Gene Sequencing, Developmental Delay NGS Panel, GNAQ Mutation Analysis, GNAQ Gene Mutation Test

GNAQ Gene Developmental delay, GNAQ related 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 Reports are issued within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestChildren🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the GNAQ gene that may be associated with developmental delay and related neurological disorders, enabling accurate diagnosis and guiding management.

Test Code
4004
ICD Code
R62.50
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required for this test.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Blood sample collection by a trained phlebotomist or dried blood spot on FTA card.

Step 3

Report Delivery

No post-test restrictions. The patient can resume normal activities.

Timeline: Reports are issued within 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. A genetic counselling session is recommended before testing to draw a pedigree chart.
2
During the Test:A blood sample will be collected by a trained phlebotomist, or a simple finger-prick blood spot on FTA card may be provided.
3
After the Test:The sample will be processed in the laboratory. Results are expected within 3 to 4 weeks. You will be contacted by our genetic counsellor to explain the report.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the GNAQ gene that may be associated with developmental delay and related neurological disorders, enabling accurate diagnosis and guiding management.

How to Prepare

  • Blood sample in EDTA vacutainer (2-3 ml)
  • FTA card with one drop of blood
  • Extracted DNA in a sterile tube (minimum 1 µg)

Doctor's Notes

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

"Genetic evaluation is crucial for accurate diagnosis and management of developmental delay."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA tube / FTA card / Sterile tube
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Stable for 24 hours at room temperature (blood)
Stable for 7 days at 2-8°C (blood)
Stable for months on FTA card at room temperature
Stable for years at -20°C (extracted DNA)
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient blood volume or DNA quantity
  • Improperly labeled sample
  • Sample received more than 7 days after collection without refrigeration

Understanding Your Results

The test identifies pathogenic variants in the GNAQ gene. A positive result may confirm the genetic cause of developmental delay. A negative result does not rule out a genetic cause, and further evaluation may be needed.
Positive: Pathogenic variant detected - indicates a genetic cause for the phenotype
Negative: No pathogenic variant identified - further genetic testing or clinical evaluation may be warranted
Variant of Uncertain Significance (VUS) - requires further segregation analysis and clinical correlation
⚠️ When to Consult a Doctor:

If you notice any signs of developmental delay in your child, consult a pediatric neurologist or clinical geneticist for a comprehensive evaluation.

Limitations

  • ⚠This test may not detect all genetic causes of developmental delay
  • ⚠Variants of uncertain significance may require additional family studies
  • ⚠Results should be interpreted in conjunction with clinical findings by a qualified geneticist

Risks & Considerations

  • ●Minimal risk of discomfort or bruising at the puncture site
  • ●Very low risk of infection
  • ●No radiation or chemical exposure

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Presence of maternal cell contamination in cord blood samples

Frequently Asked Questions

What is the GNAQ gene?
The GNAQ gene provides instructions for making a protein that is involved in signaling pathways controlling cell growth and division. Mutations in this gene are associated with developmental delay, Sturge-Weber syndrome, and certain types of melanoma.
How is the GNAQ gene related to developmental delay?
Pathogenic variants in the GNAQ gene can disrupt normal brain development and function, leading to developmental delays such as speech and motor skills delays, cognitive impairment, and behavioral issues.
What does this NGS genetic test detect?
This test uses Next-Generation Sequencing (NGS) to analyze the entire coding region of the GNAQ gene for pathogenic variants that may be responsible for developmental delay.
Who should undergo this test?
Children with unexplained developmental delay, regression, or features suggestive of GNAQ-related conditions such as Sturge-Weber syndrome. It is also recommended for family members of individuals with known GNAQ mutations.
What is the cost of the test?
The cost of the GNAQ gene NGS genetic test at DNA Labs India is Rs 20000. This includes free home sample collection in select cities.
What sample types are accepted?
We accept blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. All samples are equally valid for testing.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can have your sample collected at any time of the day.
How long does it take to get results?
The turn-around time is 3 to 4 weeks from the date the sample is received at the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, and many others.
What is the accuracy of this test?
The test uses next-generation sequencing with high sensitivity and specificity for detecting variants in the GNAQ gene. Results are confirmed by Sanger sequencing if a variant is identified.
Are there any risks associated with the test?
The only risk is minor discomfort or bruising at the blood draw site. There are no other significant risks.
What do the results mean?
A positive result indicates a pathogenic variant in the GNAQ gene, confirming the genetic cause. A negative result means no pathogenic variant was found, but other genetic or non-genetic causes should be explored. A variant of uncertain significance requires further family studies.
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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