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FXN Gene Friedreich ataxia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FXN Gene Friedreich ataxia NGS Genetic Test

Short Name: Friedreich Ataxia NGS Test

Also known as: FRDA, Spinocerebellar ataxia, Friedreich type, Friedreich's ataxia

FXN Gene Friedreich ataxia 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, typically symptoms appear in childhood or adolescence🏠 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 purpose of this test is to diagnose Friedreich Ataxia by detecting mutations in the FXN gene, confirm clinical findings, guide treatment decisions, and facilitate genetic counseling for affected families.

Test Code
1621
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Friedreich Ataxia are required before testing.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Sample collection involves a simple blood draw or application of a blood drop on an FTA card, performed by a trained phlebotomist.

Step 3

Report Delivery

Store the sample at ambient room temperature and transport to the lab promptly for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Complete genetic counseling and provide clinical history as instructed.
2
During the Test:Sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Wait for the report turnaround time and discuss results with a healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Friedreich Ataxia by detecting mutations in the FXN gene, confirm clinical findings, guide treatment decisions, and facilitate genetic counseling for affected families.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes or FTA cards
  • Avoid hemolysis in blood samples
  • Label samples correctly with patient details

Doctor's Notes

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

"Early genetic testing for Friedreich Ataxia is crucial for accurate diagnosis, genetic counseling, and planning appropriate management strategies to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples stable at room temperature for 24-48 hours
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Improperly labeled specimens

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FXN gene. Positive results confirm Friedreich Ataxia diagnosis, while negative results may require further clinical evaluation.
Pathogenic variant detected: Consistent with Friedreich Ataxia diagnosis
No variant detected: Does not entirely rule out the condition if clinical suspicion is high
Variants of uncertain significance (VUS): Require further family studies and clinical correlation
Genetic counseling is recommended to discuss implications and family planning
⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms suggestive of Friedreich Ataxia are present, or for genetic counseling after test results.

Limitations

  • ⚠This test does not rule out other genetic causes of ataxia
  • ⚠Variants of uncertain significance (VUS) may be identified
  • ⚠Cannot predict disease severity or progression exactly

Risks & Considerations

  • ●Minimal risks from blood draw: slight pain, bruising, or infection at the site

Interfering Factors

  • ●Degraded or low-quality DNA sample
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions may affect results

Compare With Similar Tests

TestFXN Gene Friedreich ataxia NGS Genetic TestAtaxia Gene PanelSanger Sequencing for FXNMLPA for FXNWhole Exome Sequencing
ComparisonFXN Gene Friedreich ataxia NGS Genetic Test

Frequently Asked Questions

What is Friedreich Ataxia?
Friedreich Ataxia is a rare genetic disorder affecting the nervous system, causing progressive movement difficulties, heart problems, and other symptoms due to mutations in the FXN gene.
What does the FXN Gene NGS Test detect?
This test detects mutations, including trinucleotide repeat expansions, in the FXN gene using Next-Generation Sequencing technology to diagnose Friedreich Ataxia.
How much does the test cost?
The FXN Gene Friedreich Ataxia NGS Genetic Test costs INR 20,000 at DNA Labs India, with home sample collection available.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used for testing.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What should I do before getting tested?
Before testing, a genetic counseling session is recommended to draw a family pedigree and discuss the test's implications.
How accurate is this NGS test?
NGS technology provides high accuracy in detecting FXN gene mutations, but results should be interpreted by healthcare professionals.
Are there any risks associated with the test?
The test involves minimal risks from blood collection, such as slight pain or bruising, with no major health risks.
What if the test results are positive?
Positive results confirm Friedreich Ataxia diagnosis; consult a neurologist or genetic counselor for management and family planning.
Does DNA Labs India provide raw data?
Yes, DNA Labs India shares raw data, FASTQ, and VCF files along with the clinical report for transparency.
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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