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CNGB3 Gene Achromatopsia Type 3 NGS Genetic Test

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CNGB3 Gene Achromatopsia Type 3 NGS Genetic Test

Short Name: CNGB3 Achromatopsia NGS Test

Also known as: CNGB3 Genetic Test, Achromatopsia Type 3 Genetic Test, CNGB3 NGS Test

CNGB3 Gene Achromatopsia Type 3 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.

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

To identify pathogenic mutations in the CNGB3 gene responsible for achromatopsia type 3, enabling accurate diagnosis, genetic counseling, and personalized management of the condition.

Test Code
1473
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with achromatopsia or related conditions.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Sample collection via venipuncture for blood or using FTA card for one drop of blood, performed by trained phlebotomists.

Step 3

Report Delivery

Sample is properly labeled, stored under appropriate conditions, and transported to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, review family history, and obtain informed consent from the patient or guardian.
2
During the Test:Sample collection in a clinical setting or via home collection service, with no special procedures required from the patient.
3
After the Test:Results are analyzed by the laboratory, and a report is generated with interpretations and recommendations for follow-up.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the CNGB3 gene responsible for achromatopsia type 3, enabling accurate diagnosis, genetic counseling, and personalized management of the condition.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Follow standard blood collection procedures
  • Label sample with patient details and test information

Doctor's Notes

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

"This genetic test is crucial for early diagnosis of achromatopsia, enabling timely management 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
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Incorrectly labeled or unidentified samples
  • Contaminated or degraded samples

Understanding Your Results

Results are interpreted based on the detection of pathogenic or likely pathogenic variants in the CNGB3 gene, which are associated with achromatopsia type 3.
📊

Positive for pathogenic variant

Confirms diagnosis of achromatopsia type 3; genetic counseling and management strategies recommended.

📊

Negative for pathogenic variant

Achromatopsia type 3 is unlikely based on CNGB3 analysis; clinical correlation and consideration of other genetic tests may be needed.

📊

Variant of uncertain significance (VUS)

Further testing, family studies, or clinical follow-up may be required to determine clinical significance.

⚠️ When to Consult a Doctor:

Consult a geneticist or ophthalmologist if you experience symptoms of color blindness, light sensitivity, or nystagmus, or have a family history of achromatopsia, for evaluation and potential genetic testing.

Limitations

  • ⚠May not detect all types of mutations in the CNGB3 gene
  • ⚠Limited to CNGB3 gene analysis only
  • ⚠Cannot rule out other genetic causes of achromatopsia or color vision disorders
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

  • ●Minimal risk from blood draw, such as minor bruising, pain, or infection at the collection site
  • ●No specific risks from the genetic testing process itself

Interfering Factors

  • ●Poor sample quality due to improper collection
  • ●Contamination during sample handling
  • ●Insufficient DNA quantity for analysis

Compare With Similar Tests

TestCNGB3 Gene Achromatopsia Type 3 NGS Genetic TestCNGA3 Gene Achromatopsia Type 2 NGS Genetic TestFull Achromatopsia Gene PanelRoutine Eye Examination
ComparisonCNGB3 Gene Achromatopsia Type 3 NGS Genetic TestAnalyzes the CNGA3 gene for mutations causing achromatopsia type 2, a similar but distinct genetic condition.Covers multiple genes associated with achromatopsia for comprehensive genetic analysis.Non-genetic assessment for visual symptoms; does not provide genetic diagnosis.

Frequently Asked Questions

What is CNGB3 Gene Achromatopsia Type 3?
It is a genetic disorder caused by mutations in the CNGB3 gene, leading to color blindness and other vision issues such as reduced visual acuity and light sensitivity.
What are the symptoms of achromatopsia type 3?
Symptoms include inability to see colors, reduced visual acuity, extreme sensitivity to light (photophobia), and involuntary eye movements (nystagmus), often present from birth or early childhood.
How is the CNGB3 genetic test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the CNGB3 gene from a blood, saliva, or FTA card sample, providing accurate detection of genetic mutations.
What is the cost of this genetic test?
The cost of the CNGB3 Gene Achromatopsia Type 3 NGS Genetic Test is INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India for added convenience.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is this test covered by insurance?
Generally, this genetic test is not covered by insurance, but it is recommended to check with your insurance provider for specific coverage options.
Who should consider taking this test?
Individuals with symptoms of color blindness, light sensitivity, or nystagmus, or those with a family history of achromatopsia or color vision deficiencies should consider this test.
What is NGS technology?
NGS stands for Next-Generation Sequencing, a high-throughput DNA sequencing technology that allows for accurate and comprehensive analysis of genetic material.
Are there any risks associated with the test?
The only risks are from the blood draw, such as minor bruising or discomfort; the genetic testing process itself poses no additional health risks.
How should I prepare for the test?
No fasting is required. Provide your clinical history and attend a genetic counseling session before sample collection for proper guidance.
What do the test results mean?
Positive results indicate the presence of pathogenic variants in the CNGB3 gene, confirming achromatopsia type 3. Negative results suggest no mutations, but clinical correlation is advised for accurate diagnosis.
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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