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FMR1 Gene Fragile X syndrome NGS Genetic Test

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FMR1 Gene Fragile X syndrome NGS Genetic Test

Short Name: FMR1 Fragile X NGS Test

Also known as: Fragile X Syndrome Genetic Test, FMR1 Mutation Test, Fragile X DNA Test

FMR1 Gene Fragile X syndrome 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the FMR1 Gene Fragile X Syndrome NGS Genetic Test is to diagnose Fragile X Syndrome by detecting mutations in the FMR1 gene using next-generation sequencing technology, aiding in clinical management, genetic counseling, and family risk assessment.

Test Code
1623
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 special preparation required. Inform the healthcare provider of any medications, health conditions, or family history. Genetic counseling is recommended prior to testing.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

A blood sample is drawn from a vein in the arm or a blood drop is collected on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply gentle 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 is recommended to discuss test implications, benefits, and limitations. Provide detailed clinical and family history.
2
During the Test:The collected sample undergoes DNA extraction and next-generation sequencing to analyze the FMR1 gene for mutations and CGG repeat expansions.
3
After the Test:A detailed report is generated with findings, interpretation, and recommendations for further action or counseling.

About This Test

Who Should Get This Test

The purpose of the FMR1 Gene Fragile X Syndrome NGS Genetic Test is to diagnose Fragile X Syndrome by detecting mutations in the FMR1 gene using next-generation sequencing technology, aiding in clinical management, genetic counseling, and family risk assessment.

How to Prepare

  • Ensure proper patient identification and sample labeling
  • Use aseptic technique to avoid contamination
  • For blood drops on FTA card, follow manufacturer instructions

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early detection of Fragile X Syndrome through NGS testing allows for timely intervention, personalized management, and genetic counseling, improving patient outcomes and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL for blood sample
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood sample: stable for 48 hours at room temperature
Extracted DNA: stable for up to 1 year at -20°C
Sample Rejection Criteria:
  • Sample hemolyzed or clotted
  • Insufficient sample volume
  • Incorrect sample container or label
  • Sample stored improperly

Understanding Your Results

Results from the FMR1 Gene Fragile X Syndrome NGS Genetic Test provide information on the presence or absence of mutations in the FMR1 gene associated with Fragile X Syndrome and related conditions.
Normal Result: No pathogenic variants or CGG expansions detected, indicating low risk for Fragile X Syndrome.
Premutation Carrier: 55-200 CGG repeats; individual may be at risk for associated conditions like FXTAS or FXPOI.
Full Mutation: Over 200 CGG repeats or other pathogenic variants; diagnosis of Fragile X Syndrome, clinical correlation recommended.
Other Variants: Detection of point mutations or deletions may require further evaluation.
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if results indicate any abnormality, carrier status, or if there is a clinical suspicion of Fragile X Syndrome despite negative results.

Limitations

  • ⚠May not detect all types of genetic variations, such as deep intronic mutations
  • ⚠Results require interpretation by a qualified geneticist
  • ⚠Not suitable for prenatal diagnosis without confirmation by other methods
  • ⚠Cannot assess FMRP protein levels directly

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Very low risk of infection
  • ●Potential psychological impact from results

Interfering Factors

  • ●Contaminated DNA sample
  • ●Hemolyzed blood sample
  • ●Improper sample storage or transport

Compare With Similar Tests

TestFMR1 Gene Fragile X syndrome NGS Genetic TestPCR-Based TestSouthern Blot TestFMR1 Gene Methylation Analysis
ComparisonFMR1 Gene Fragile X syndrome NGS Genetic Test

Frequently Asked Questions

What is Fragile X Syndrome?
Fragile X Syndrome is a genetic condition caused by mutations in the FMR1 gene, leading to intellectual disability, behavioral challenges, and distinctive physical features.
What causes Fragile X Syndrome?
It is caused by an expansion of CGG repeats in the FMR1 gene, resulting in reduced or absent production of the FMRP protein essential for brain development.
What are the common symptoms of Fragile X Syndrome?
Symptoms include intellectual disability, delayed speech, hyperactivity, hand flapping, autism spectrum disorder, and physical features like a long face and large ears.
How is Fragile X Syndrome diagnosed?
Diagnosis is typically through genetic testing, such as NGS or PCR, to detect mutations in the FMR1 gene.
What is NGS genetic testing?
NGS (Next-Generation Sequencing) is an advanced technology that sequences the entire FMR1 gene to identify various mutations, including CGG expansions and point mutations.
Why choose NGS over other tests for Fragile X Syndrome?
NGS offers higher accuracy, comprehensive analysis of the gene, and can detect a wider range of mutations compared to traditional methods like PCR or Southern blot.
What is the cost of the FMR1 Gene NGS Test in India?
The test costs INR 20000 at DNA Labs India, which includes sample collection and analysis.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
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 whether pathogenic variants in the FMR1 gene are detected; interpretation should be done by a geneticist to understand implications.
Can Fragile X Syndrome be treated?
There is no cure, but early diagnosis allows for interventions such as behavioral therapy, educational support, and medication to manage symptoms.
Is genetic counseling recommended before and after testing?
Yes, genetic counseling is highly recommended to discuss test benefits, limitations, and implications for family planning 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

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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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