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CACNA1F Gene Cone-Rod Dystrophy, X-Linked Type 3 NGS Genetic Test

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CACNA1F Gene Cone-Rod Dystrophy, X-Linked Type 3 NGS Genetic Test

Short Name: CACNA1F Cone-Rod Dystrophy NGS

Also known as: CACNA1F-related cone-rod dystrophy, Cone-rod dystrophy, X-linked type 3, CACNA1F-associated inherited retinal dystrophy

CACNA1F Gene Cone-Rod Dystrophy, X-Linked 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 from the date of sample receipt in the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The primary purpose of this test is to identify pathogenic variants in the CACNA1F gene to confirm a diagnosis of X-linked cone-rod dystrophy type 3, to identify at-risk carriers, and to enable informed genetic counselling for affected families.

Test Code
3823
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from the date of sample receipt in the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended to document clinical history and draw a family pedigree before the test. Please bring previous eye examination records if available.

Method: Peripheral venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small blood sample. If an FTA card is used, one drop of blood will be applied to the card.

Step 3

Report Delivery

There are no restrictions after sample collection. You may resume daily activities immediately.

Timeline: 3 to 4 weeks from the date of sample receipt in the laboratory.

Patient Instructions

1
Before the Test:Attend genetic counselling, provide medical and family history, and share any prior eye examination reports. No fasting is required.
2
During the Test:A small blood sample or FTA card blood spot is collected. The collection procedure takes only a few minutes.
3
After the Test:No post-test restrictions are needed. Results are usually available in 3 to 4 weeks and will be shared through the chosen delivery method.

About This Test

Who Should Get This Test

The primary purpose of this test is to identify pathogenic variants in the CACNA1F gene to confirm a diagnosis of X-linked cone-rod dystrophy type 3, to identify at-risk carriers, and to enable informed genetic counselling for affected families.

How to Prepare

  • No special dietary preparation is required.
  • Bring previous ophthalmology reports and family history details.
  • Complete the genetic counselling session and provide informed consent.
  • Ensure patient identity and sample label are correct.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Cone-rod dystrophy in young males often presents with photophobia and poor central vision. Electroretinography helps identify cone-rod dysfunction, but NGS genetic testing is needed for a definite molecular diagnosis and to guide family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-4 ml whole blood / 3-5 µg extracted DNA / 1 FTA blood spot
ContainerEDTA vacutainer / sterile DNA tube / FTA card
Collection MethodPeripheral venipuncture or FTA card blood spot

Sample Stability

Whole blood (EDTA): stable at 2-8°C for up to 72 hours
Extracted DNA: stable at -20°C for at least 6 months
FTA card: stable at ambient temperature for several weeks
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient sample quantity for NGS
  • Incorrect or missing patient identification
  • Leaking or unlabelled sample container

Understanding Your Results

Interpretation of this genetic test should be performed by a qualified clinical geneticist in the context of the patient’s symptoms, family history, and other ophthalmological investigations.
📊

Pathogenic or likely pathogenic variant detected in CACNA1F

Confirms the diagnosis of CACNA1F-related cone-rod dystrophy, X-linked type 3. Genetic counselling and family testing are recommended.

📊

No pathogenic variant detected

Does not exclude CACNA1F-related disease. Other genetic or non-genetic causes should be considered.

📊

Variant of uncertain significance (VUS)

Clinical significance is unknown. Further family studies and clinical correlation may be required.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist or clinical geneticist if you or your child have unexplained reduced vision, photophobia, colour vision loss, nystagmus, or if there is a known family history of cone-rod dystrophy.

Limitations

  • ⚠This test is targeted to the CACNA1F gene and does not evaluate all genes associated with cone-rod dystrophy.
  • ⚠Deep intronic mutations, large structural rearrangements, or copy number variants may not be detected unless separately analysed.
  • ⚠A negative result does not exclude a genetic cause in other genes.
  • ⚠Variants of uncertain significance may require additional family studies for interpretation.

Risks & Considerations

  • ●Slight pain or bruising at the venipuncture site
  • ●Rare risk of bleeding or infection
  • ●Potential psychological impact of receiving genetic test results

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination or mislabelling
  • ●Recent blood transfusion may affect analysis if whole blood is used
  • ●Low-level mosaicism may be missed
  • ●Clinical overlap with other inherited retinal disease genes

Compare With Similar Tests

TestCACNA1F Gene Cone-Rod Dystrophy, X-Linked Type 3 NGS Genetic Test
ComparisonCACNA1F Gene Cone-Rod Dystrophy, X-Linked Type 3 NGS Genetic Test

Frequently Asked Questions

What is CACNA1F-related cone-rod dystrophy, X-linked type 3?
It is a rare inherited retinal disease caused by variants in the CACNA1F gene on the X chromosome, leading to progressive loss of cone and rod photoreceptor function. Symptoms include decreased visual acuity, light sensitivity, colour vision problems, and nystagmus.
Who should undergo this test?
Individuals with clinical features of cone-rod dystrophy, especially young boys with reduced vision and photophobia, and individuals with a family history of X-linked cone-rod dystrophy. It may also be used for carrier testing in at-risk females.
What sample is required for this test?
Blood is collected in an EDTA tube. Alternatively, extracted DNA or one drop of blood on an FTA card is accepted.
Do I need to fast before the test?
No, fasting is not required for this CACNA1F NGS genetic test.
How is the CACNA1F gene analysed?
Next-generation sequencing is performed in a NABL-accredited laboratory to read the coding exons and splice regions of CACNA1F, followed by bioinformatic analysis and variant classification.
What does a positive result mean?
A positive result identifies a pathogenic or likely pathogenic variant in CACNA1F, confirming the genetic diagnosis and helping guide management and family counselling.
What does a negative result mean?
A negative result means no clinically significant pathogenic variant was found in CACNA1F. It does not exclude all inherited retinal disease, as variants in other genes may also cause cone-rod dystrophy.
What is a variant of uncertain significance?
A VUS is a genetic change whose effect on health is not currently known. Additional family studies or functional analysis may be needed to clarify its significance.
What is the cost of this test?
The test price is Rs 20000 at DNA Labs India. Free home sample collection is available for online bookings.
How long will the reports take?
Reports are available in 3 to 4 weeks after the sample reaches the laboratory.
Can this test detect all causes of cone-rod dystrophy?
No, this is a single-gene test for CACNA1F. Other genes can also cause cone-rod dystrophy. A multi-gene inherited retinal dystrophy panel may be considered if clinically indicated.
Is genetic counselling needed after the test?
Yes. Genetic counselling before and after testing is recommended to discuss inheritance, implications for family members, and available management and support.
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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