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CNGA3 Gene Achromatopsia Type 2 NGS Genetic Test

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CNGA3 Gene Achromatopsia Type 2 NGS Genetic Test

Short Name: CNGA3 Achromatopsia Type 2 Test

Also known as: CNGA3 Gene Mutation Test, Color Vision Deficiency Genetic Test, Achromatopsia Genetic Screening

CNGA3 Gene Achromatopsia Type 2 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 Reports are typically available within 3-4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 pathogenic mutations in the CNGA3 gene that cause achromatopsia type 2, enabling accurate diagnosis, informed genetic counseling, and personalized management strategies for affected individuals and their families.

Test Code
1468
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3-4 weeks from sample receipt at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. Inform the healthcare provider about any medications, health conditions, or recent blood transfusions. A genetic counseling session is recommended prior to testing.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from a vein in the arm or via a finger prick for one drop on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

Apply gentle pressure to the collection site with a cotton ball or bandage to prevent bleeding. Avoid strenuous activity for a few hours if needed.

Timeline: Reports are typically available within 3-4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Consult with an ophthalmologist or geneticist to discuss symptoms, family history, and the need for testing. Provide informed consent and clinical history.
2
During the Test:Sample collection is performed as per standard protocols. The process involves a simple blood draw or finger prick, with minimal discomfort.
3
After the Test:Wait for the report, which will be delivered in 3-4 weeks. Schedule a follow-up with a healthcare provider to review results and plan management.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the CNGA3 gene that cause achromatopsia type 2, enabling accurate diagnosis, informed genetic counseling, and personalized management strategies for affected individuals and their families.

How to Prepare

  • Ensure proper patient identification and labeling of samples
  • Use sterile collection equipment and follow aseptic techniques
  • For blood samples, use EDTA tubes; for FTA cards, allow blood to dry completely
  • Store samples at ambient room temperature and transport to the lab within 48 hours

Doctor's Notes

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

"This test is crucial for early diagnosis and management of achromatopsia, helping patients access appropriate visual aids 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 Volume5 ml blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples in EDTA tubes: stable at 2-8°C for up to 48 hours
Extracted DNA: stable at -20°C for long-term storage
FTA card samples: stable at room temperature for several days
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or unlabeled samples
  • Contaminated or degraded DNA

Understanding Your Results

Results indicate the presence or absence of mutations in the CNGA3 gene. Positive results confirm achromatopsia type 2, while negative results may suggest other causes. Consult a clinical geneticist or ophthalmologist for detailed interpretation and next steps.
📊

Mutation detected

Confirms diagnosis of achromatopsia type 2. Genetic counseling is recommended for family planning and management, including visual aids and support services.

📊

No mutation detected

Achromatopsia type 2 is unlikely based on this gene, but other genetic or non-genetic causes may exist. Further clinical evaluation and testing may be advised.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if you or your child experiences symptoms such as color blindness, sensitivity to light, poor vision, or involuntary eye movements, especially if there is a family history of similar conditions. After testing, discuss results with a specialist for appropriate management.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or intronic mutations
  • ⚠Requires interpretation by a qualified geneticist or ophthalmologist
  • ⚠Not a substitute for comprehensive clinical evaluation and electroretinography
  • ⚠Results may be inconclusive in some cases, necessitating further testing

Risks & Considerations

  • ●Minimal risk associated with blood collection, such as bruising, pain, or infection at the site
  • ●Potential psychological impact of genetic results; counseling is recommended

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Technical errors in sequencing or sample handling
  • ●Presence of mosaicism or low-level variants
  • ●Recent blood transfusions affecting DNA integrity

Compare With Similar Tests

TestCNGA3 Gene Achromatopsia Type 2 NGS Genetic Test
ComparisonCNGA3 Gene Achromatopsia Type 2 NGS Genetic TestTargets mutations in the OPN1LW gene for red-green color vision deficiencies, not achromatopsiaTests for mutations in CNGB3 gene, another cause of achromatopsia type 3Analyzes multiple genes associated with inherited eye disorders, including achromatopsiaScreen for genes causing retinal degeneration, which may include achromatopsia

Frequently Asked Questions

What is achromatopsia type 2?
Achromatopsia type 2 is a rare genetic disorder that affects cone photoreceptors in the retina, leading to color blindness, sensitivity to light, and reduced visual acuity. It is caused by mutations in the CNGA3 gene.
What causes achromatopsia type 2?
The condition is primarily caused by mutations in the CNGA3 gene, which is essential for normal cone function. It is inherited in an autosomal recessive pattern.
How is the CNGA3 Gene Achromatopsia Type 2 NGS Genetic Test performed?
The test uses Next Generation Sequencing (NGS) technology to analyze the CNGA3 gene for mutations. A blood or DNA sample is collected and processed in the laboratory.
What sample is required for this test?
The test requires a blood sample (5 ml in EDTA tube), extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the results?
Results are typically available within 3-4 weeks from the time the sample reaches the laboratory.
What is the cost of the test?
The cost of the CNGA3 Gene Achromatopsia Type 2 NGS Genetic Test at DNA Labs India is INR 20000.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India when booked online.
Who should consider taking this test?
Individuals with symptoms like color blindness, photophobia, nystagmus, or a family history of achromatopsia should consider this test for diagnosis and genetic counseling.
Can this test diagnose other conditions?
This test is specific to achromatopsia type 2 caused by CNGA3 mutations. It does not diagnose other types of color vision deficiency or eye disorders unless part of a broader panel.
What are the limitations of the test?
Limitations include the possibility of not detecting all mutation types, the need for professional interpretation, and that it does not replace clinical evaluation.
How accurate is the test?
NGS technology is highly accurate for detecting known pathogenic mutations in the CNGA3 gene, but accuracy depends on sample quality and laboratory protocols.
What should I do after getting the results?
Discuss the results with a genetic counselor or ophthalmologist to understand the diagnosis, explore management options, and plan for genetic counseling if needed.
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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