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FLVCR1 Gene Ataxia, Posterior Column, with Retinitis Pigmentosa NGS Genetic Test

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FLVCR1 Gene Ataxia, Posterior Column, with Retinitis Pigmentosa NGS Genetic Test

Short Name: FLVCR1 Ataxia with Retinitis Pigmentosa Test

Also known as: Biemond Syndrome, Posterior Column Ataxia with Retinitis Pigmentosa, FLVCR1-Related Disorder

FLVCR1 Gene Ataxia, Posterior Column, with Retinitis Pigmentosa NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 (symptoms often appear in childhood or adolescence)🏠 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

This test is used to diagnose FLVCR1 Gene Ataxia with Retinitis Pigmentosa by detecting mutations in the FLVCR1 gene via Next-Generation Sequencing (NGS). It helps confirm the disorder in symptomatic individuals, guides treatment planning, and assists in genetic counseling for families.

Test Code
1517
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree as advised.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist. For FTA cards, a finger-prick may be used.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to understand test implications.
2
During the Test:Sample collection via blood draw or FTA card; procedure is minimally invasive.
3
After the Test:Reports are delivered in 3-4 weeks. Discuss results with your doctor for next steps.

About This Test

Who Should Get This Test

This test is used to diagnose FLVCR1 Gene Ataxia with Retinitis Pigmentosa by detecting mutations in the FLVCR1 gene via Next-Generation Sequencing (NGS). It helps confirm the disorder in symptomatic individuals, guides treatment planning, and assists in genetic counseling for families.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection equipment
  • Transport samples at ambient room temperature as specified

Doctor's Notes

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

"Early genetic testing for FLVCR1 mutations can aid in timely management and family planning. Consult a neurologist if symptoms like balance issues or vision loss appear."

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
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for 1 week at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect sample type or container

Understanding Your Results

Results indicate whether pathogenic mutations in the FLVCR1 gene are detected. A positive result confirms the diagnosis, while a negative result may require further clinical evaluation.
Detected: Pathogenic mutation found, consistent with FLVCR1-related disorder
Not Detected: No pathogenic variants identified; consider other diagnoses
Variant of Uncertain Significance: Mutation found but clinical significance unknown; genetic counseling recommended
⚠️ When to Consult a Doctor:

If you experience symptoms like progressive balance issues, vision loss, or numbness, especially with a family history of similar conditions. Consult a neurologist or geneticist for evaluation.

Limitations

  • ⚠May not detect all genetic variants, including deep intronic mutations
  • ⚠Results require clinical correlation for definitive diagnosis
  • ⚠Cannot predict disease severity or progression accurately

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling is advised

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample collection
  • ●Use of incorrect sample type

Frequently Asked Questions

What is FLVCR1 Gene Ataxia with Retinitis Pigmentosa?
It is a rare genetic disorder caused by mutations in the FLVCR1 gene, leading to neurological symptoms like ataxia and vision loss due to retinitis pigmentosa.
Who should consider this genetic test?
Individuals with symptoms such as balance problems, vision loss, or numbness, and those with a family history of the disorder.
How is the test performed?
The test uses NGS technology to analyze DNA from a blood sample or FTA card for mutations in the FLVCR1 gene.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, with home sample collection included.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms a pathogenic mutation in the FLVCR1 gene, supporting a diagnosis of the disorder.
Can the test detect all mutations?
While NGS is highly accurate, it may not detect all genetic variants, such as those in non-coding regions.
Is genetic counseling required?
Yes, pre- and post-test genetic counseling is recommended to understand implications and family risks.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Are there any risks to the test?
The test involves minimal risks from blood collection, such as bruising. Psychological support is available if needed.
How should I prepare for the test?
No fasting is required. Provide your clinical history and family pedigree for accurate interpretation.
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.

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