GUCA1A Gene Cone-Rod Dystrophy Type 14 NGS Genetic Test
Short Name: GUCA1A Cone-Rod Dystrophy Type 14 NGS
Also known as: GUCA1A Cone Rod Dystrophy Type 14 NGS Genetic Test, Cone Rod Dystrophy Type 14 DNA Test
GUCA1A Gene Cone-Rod Dystrophy Type 14 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 delivered within 3 to 4 weeks from the date the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic variants in the GUCA1A gene that cause Cone-Rod Dystrophy Type 14. It helps confirm the clinical diagnosis, enables early vision management, provides accurate recurrence risk information for families, and guides reproductive and therapeutic decision-making.
- Test Code
- 3813
- ICD Code
- H35.50
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from the date the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A genetic counseling session may be arranged before testing to discuss the benefits and limitations of the test.
Method: Blood draw / FTA card spot / Extracted DNA submission
Laboratory Analysis
A simple blood sample is collected by a trained phlebotomist. If using an FTA card, a small drop of blood is placed on the card. Extracted DNA can also be submitted directly.
Report Delivery
No restrictions. You can resume normal activities immediately after sample collection.
Timeline: Reports are delivered within 3 to 4 weeks from the date the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the GUCA1A gene that cause Cone-Rod Dystrophy Type 14. It helps confirm the clinical diagnosis, enables early vision management, provides accurate recurrence risk information for families, and guides reproductive and therapeutic decision-making.
How to Prepare
- No fasting is required before sample collection.
- Inform the laboratory if you have had a bone marrow transplant or a blood transfusion, as it may affect genetic test accuracy.
- Carry a valid government ID and a signed prescription or referral from your doctor, if applicable.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an ophthalmologist, I recommend genetic testing for cone-rod dystrophy when the clinical picture is suggestive. Early confirmation helps with prognosis, family screening, and eligibility for future gene therapies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Clotted blood sample
- Sample without proper labeling
- Sample received in an improper container
- Sample that is visibly hemolyzed or degraded
Understanding Your Results
If you or a family member have symptoms such as progressive color vision loss, photophobia, night blindness, peripheral vision loss, or a known family history of cone-rod dystrophy, consult an ophthalmologist and a clinical geneticist.
Limitations
- ⚠Detects variants only in the GUCA1A gene; other genes causing cone-rod dystrophy will not be evaluated.
- ⚠Variants of uncertain significance may be reported and require additional family studies for interpretation.
- ⚠Large structural rearrangements or deep intronic mutations may not be detected by standard NGS analysis.
Risks & Considerations
- ●No significant physical risks associated with blood collection.
- ●Possible psychological impact of learning a genetic diagnosis.
- ●Rare chance of incidental findings requiring further investigation.
Interfering Factors
- ●Poor quality or degraded DNA
- ●Sample contamination
- ●Incomplete clinical information provided with the sample
Frequently Asked Questions
What is the GUCA1A Cone-Rod Dystrophy Type 14 NGS Genetic Test?
What sample is needed for the GUCA1A gene test?
Is fasting required for this genetic test?
What is the cost of the test at DNA Labs India?
How long does it take to get test results?
Will I receive the raw data along with the report?
Is home sample collection available?
Does the test require a doctor's prescription?
Can this test be done for children?
What is Cone-Rod Dystrophy Type 14?
How accurate is the NGS test for GUCA1A?
What should I do if the test result is positive?
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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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✓ 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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