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GNAT2 Gene Achromatopsia Type 4 NGS Genetic Test

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GNAT2 Gene Achromatopsia Type 4 NGS Genetic Test

Short Name: GNAT2 Achromatopsia Type 4 NGS Test

Also known as: GNAT2-related Achromatopsia, Achromatopsia Type 4 Genetic Test

GNAT2 Gene Achromatopsia Type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

The purpose of this test is to identify mutations in the GNAT2 gene that cause Achromatopsia Type 4, enabling accurate diagnosis, personalized management, and genetic counseling for affected individuals and their families.

Test Code
1462
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS, Next-Generation Sequencing
Step 1

Sample Collection

Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of family members affected with achromatopsia.

Method: Venipuncture or FTA Card Spot

Step 2

Laboratory Analysis

Standard blood draw using venipuncture or collection of a blood drop on an FTA card, performed by a trained phlebotomist.

Step 3

Report Delivery

Ensure sample is labeled correctly and stored at ambient room temperature for stability before transport to the laboratory.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and pedigree analysis are recommended before testing to understand family history and implications.
2
During the Test:Blood sample collection via venipuncture or FTA card, followed by DNA extraction and NGS analysis in the laboratory.
3
After the Test:Results are reviewed by geneticists, and a comprehensive report is provided. Genetic counseling is advised for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the GNAT2 gene that cause Achromatopsia Type 4, enabling accurate diagnosis, personalized management, and genetic counseling for affected individuals and their families.

How to Prepare

  • Provide detailed clinical history of the patient.
  • Complete a genetic counseling session to document family history.
  • Use sterile equipment for blood collection.
  • Store sample in appropriate container (EDTA tube or FTA card).

Doctor's Notes

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

"Genetic testing for achromatopsia is crucial for accurate diagnosis, management, and family planning, especially for rare disorders like GNAT2-related achromatopsia."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood in EDTA Tube
FTA Card
Sample Rejection Criteria:
  • Hemolyzed samples
  • Contaminated samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Interpretation of results involves identifying mutations in the GNAT2 gene. A positive result confirms a genetic basis for achromatopsia, while a negative result may require further testing or indicate other causes.
📊

Confirms diagnosis of GNAT2-related achromatopsia; genetic counseling recommended.

📊

No pathogenic variants detected; consider testing other genes or clinical evaluation.

📊

Mutation found but clinical significance unknown; follow-up testing may be needed.

⚠️ When to Consult a Doctor:

If you experience symptoms such as complete color blindness, photosensitivity, or nystagmus, especially if there is a family history of achromatopsia or color vision deficiency.

Limitations

  • ⚠This test only analyzes the GNAT2 gene; other genes linked to achromatopsia are not covered.
  • ⚠May not detect all possible mutations, including deep intronic or regulatory variants.
  • ⚠Results require interpretation by a genetic counselor or specialist.

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection at the site.

Interfering Factors

  • ●Hemolyzed or contaminated blood samples
  • ●Improper sample storage or handling
  • ●DNA degradation

Compare With Similar Tests

TestGNAT2 Gene Achromatopsia Type 4 NGS Genetic TestCNGA3 Gene Achromatopsia Type 2 NGS Genetic TestCNGB3 Gene Achromatopsia Type 3 NGS Genetic TestComprehensive Achromatopsia Gene Panel
ComparisonGNAT2 Gene Achromatopsia Type 4 NGS Genetic Test

Frequently Asked Questions

What is GNAT2 Gene Achromatopsia Type 4?
It is a rare genetic disorder caused by mutations in the GNAT2 gene, leading to color blindness, reduced visual acuity, and other vision problems.
Who should take this genetic test?
Individuals experiencing symptoms like complete color blindness, photosensitivity, or nystagmus, especially with a family history of achromatopsia.
How is the test performed?
Using Next-Generation Sequencing (NGS) technology to analyze the entire GNAT2 gene from a blood sample or DNA extract.
What are the symptoms of achromatopsia type 4?
Symptoms include complete color blindness, difficulty distinguishing shades of gray, photosensitivity, nystagmus, decreased visual acuity, and central scotoma.
Is genetic testing necessary for diagnosis?
Yes, genetic testing confirms the diagnosis and helps in management and genetic counseling, especially for rare disorders.
What is the cost of the test?
The test costs INR 20000.0, with home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in multiple cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks from sample receipt.
What does the test report include?
A clinical test report with mutation analysis, along with raw data files such as FASTQ and VCF for transparency.
Is the test accurate?
Yes, using NGS technology ensures high accuracy in detecting both known and novel mutations in the GNAT2 gene.
Can it be used for prenatal diagnosis?
Consult a genetic counselor for prenatal testing options, as this test is primarily for postnatal diagnosis.
How to interpret the results?
Results should be interpreted by a qualified geneticist or healthcare professional, with genetic counseling recommended.
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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