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FMR1 Gene Premature ovarian failure type 1 NGS Genetic Test

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FMR1 Gene Premature ovarian failure type 1 NGS Genetic Test

Short Name: FMR1 POF Type 1 NGS Test

Also known as: FMR1 Gene Test for POF, Fragile X-related POF Test, FMR1 Premutation Test

FMR1 Gene Premature ovarian failure type 1 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.

Genetic TestFemaleAdult Women🏠 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 identify mutations in the FMR1 gene that cause premature ovarian failure type 1, enabling accurate diagnosis and personalized management.

Test Code
5490
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 specific preparation required. Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or a blood drop is collected on an FTA card by a trained phlebotomist.

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:Genetic counseling session to discuss family history and draw a pedigree chart. Provide clinical history of the patient.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Wait for 3-4 weeks for results. Genetic counseling to interpret findings.

About This Test

Who Should Get This Test

To identify mutations in the FMR1 gene that cause premature ovarian failure type 1, enabling accurate diagnosis and personalized management.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label samples correctly
  • Transport samples at ambient room temperature

Doctor's Notes

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

"This test is crucial for women with symptoms of premature ovarian failure to identify genetic causes, aiding in fertility planning and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of FMR1 gene mutations. Genetic counseling is recommended to understand implications.
📊

Normal CGG repeats (5-44)

No FMR1 mutation detected; POF likely due to other causes.

📊

Premutation (55-200 repeats)

FMR1 premutation associated with increased risk of POF; genetic counseling advised.

📊

Full mutation (>200 repeats)

FMR1 full mutation associated with fragile X syndrome; may not directly cause POF but requires evaluation.

📊

Negative for mutations

No FMR1-related genetic cause identified; consider other diagnostic tests.

⚠️ When to Consult a Doctor:

If you experience symptoms of POF, have a family history of the condition, or are planning fertility treatments, consult a healthcare provider for test recommendation and genetic counseling.

Limitations

  • ⚠May not detect all rare genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results do not guarantee fertility outcomes
  • ⚠Limited to FMR1 gene analysis only

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestFMR1 Gene Premature ovarian failure type 1 NGS Genetic TestFragile X Syndrome Genetic TestAMH (Anti-Müllerian Hormone) TestFSH (Follicle-Stimulating Hormone) TestKaryotype Analysis
ComparisonFMR1 Gene Premature ovarian failure type 1 NGS Genetic TestFocuses on full mutations for fragile X syndrome, while this test targets premutations for POF.Measures ovarian reserve, not genetic cause; complementary to FMR1 test.Assesses hormone levels for menopause, not specific genetic mutations.Examines chromosome abnormalities, not FMR1 gene specifically.

Frequently Asked Questions

What is the FMR1 Gene Premature Ovarian Failure Type 1 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the FMR1 gene associated with premature ovarian failure.
Who should consider this test?
Women experiencing symptoms of POF, such as irregular periods or infertility, especially with a family history of POF or fragile X syndrome.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to identify FMR1 gene mutations.
What does a positive result mean?
A positive result indicates an FMR1 premutation, which increases the risk of POF, requiring genetic counseling.
Is the test covered by insurance?
No, this test is typically not covered by insurance and is paid out of pocket.
How long does it take to get results?
Results are available in 3 to 4 weeks after sample collection.
What are the symptoms of premature ovarian failure?
Symptoms include irregular periods, hot flashes, night sweats, vaginal dryness, mood swings, and decreased sex drive.
Can this test diagnose fragile X syndrome?
It can detect full mutations, but primarily targets premutations for POF; a separate test may be needed for fragile X syndrome.
Is home sample collection available?
Yes, free home collection is offered for online bookings in many cities across India.
What should I do before the test?
Undergo genetic counseling and provide your clinical history and family pedigree chart.
How accurate is the test?
The test uses advanced NGS technology for high accuracy, but genetic counseling is essential for 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.

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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