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CACNA1F Gene Aland Island Eye Disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CACNA1F Gene Aland Island Eye Disease NGS Genetic Test

Short Name: CACNA1F Gene NGS Test

Also known as: Aland Island Eye Disease Genetic Test, CACNA1F Gene Mutation Test, Retinal Dystrophy Genetic Test

CACNA1F Gene Aland Island Eye Disease 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.

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

To diagnose Aland Island Eye Disease by identifying pathogenic mutations in the CACNA1F gene through next-generation sequencing, facilitating early intervention, genetic counseling, and informed decision-making for patients and families.

Test Code
1471
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

No specific preparation required. Genetic counseling session recommended to discuss family history and test implications.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history, test implications, and consent.
2
During the Test:Sample collection via blood draw or FTA card, processed in a certified laboratory.
3
After the Test:Follow-up consultation to review results, discuss management options, and genetic counseling for family members.

About This Test

Who Should Get This Test

To diagnose Aland Island Eye Disease by identifying pathogenic mutations in the CACNA1F gene through next-generation sequencing, facilitating early intervention, genetic counseling, and informed decision-making for patients and families.

How to Prepare

  • Fast for 4-8 hours if specified by the laboratory
  • Bring identification and prescription
  • Wear comfortable clothing for easy access
  • Inform about any medications or recent transfusions

Doctor's Notes

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

"As an ophthalmologist, I recommend genetic testing for patients with symptoms of retinal dystrophy, as it can confirm diagnosis and guide family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated sample
  • Incorrect labeling
  • Clotted blood samples

Understanding Your Results

Results of the CACNA1F Gene NGS Genetic Test will indicate the presence or absence of mutations associated with Aland Island Eye Disease, guiding clinical management.
📊

Positive for pathogenic variants

Confirms diagnosis of Aland Island Eye Disease. Genetic counseling, regular eye exams, and management plan recommended.

📊

Negative for pathogenic variants

No mutations detected in CACNA1F gene. Clinical correlation advised for other causes of symptoms.

📊

Variant of uncertain significance

Further testing, family studies, or functional assays may be required for clarification.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if you experience symptoms of vision loss, have a family history of retinal disorders, or receive positive or uncertain test results. Genetic counseling is advised before and after testing.

Limitations

  • ⚠May not detect all mutations in the CACNA1F gene
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Not a diagnostic test for all retinal disorders
  • ⚠Variant of uncertain significance may require further studies

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, soreness, infection
  • ●Psychological impact of genetic results
  • ●Potential for uncertain variants requiring further investigation

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Recent blood transfusion
  • ●Improper sample storage

Frequently Asked Questions

What is Aland Island Eye Disease?
Aland Island Eye Disease is a rare genetic disorder that affects the retina, causing vision problems due to mutations in the CACNA1F gene.
What causes Aland Island Eye Disease?
It is caused by mutations in the CACNA1F gene, which is essential for normal retinal function.
What are the symptoms of Aland Island Eye Disease?
Symptoms include reduced visual acuity, night blindness, loss of peripheral vision, color blindness, and photophobia.
How is Aland Island Eye Disease diagnosed?
Diagnosis involves a comprehensive eye exam and genetic testing, such as the CACNA1F gene NGS test.
What is the CACNA1F gene?
The CACNA1F gene provides instructions for a protein important for retinal cell function; mutations can lead to Aland Island Eye Disease.
What does the NGS genetic test involve?
Next-generation sequencing (NGS) analyzes the CACNA1F gene for multiple mutations using advanced technology from a blood or DNA sample.
How much does the test cost?
The test costs INR 20000, which includes home collection and report delivery across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate the presence or absence of pathogenic mutations; positive confirms diagnosis, negative requires clinical correlation.
Can this test be done for prenatal diagnosis?
Prenatal diagnosis may be possible through genetic counseling, but consultation with a specialist is recommended.
Is genetic counseling provided with the test?
Yes, genetic counseling is recommended before and after testing to discuss implications and management.
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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