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FSHR Gene Ovarian dysgenesis type 1 NGS Genetic Test

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FSHR Gene Ovarian dysgenesis type 1 NGS Genetic Test

Short Name: FSHR Gene Ovarian Dysgenesis Type 1 Test

Also known as: FSHR Gene Mutation Test, Ovarian Dysgenesis Genetic Test, FSHR NGS Test

FSHR Gene Ovarian dysgenesis 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.

GynecologyFemaleAdolescents and Adults🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the FSHR Gene Ovarian Dysgenesis Type 1 NGS Genetic Test is to identify pathogenic mutations in the FSHR gene that cause ovarian dysgenesis type 1. This helps in confirming diagnosis, assessing genetic risk, guiding treatment decisions, and informing family planning for affected individuals.

Test Code
5543
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 counselling session to draw a pedigree chart of family members affected with ovarian dysgenesis.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture, or an extracted DNA or FTA card sample is provided.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per lab instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counselling and provide detailed clinical and family history. No specific preparation required.
2
During the Test:A blood sample is drawn, or DNA sample is collected. The process is quick and minimally invasive.
3
After the Test:Resume normal activities. Await results in 3-4 weeks and discuss with a healthcare provider.

About This Test

Who Should Get This Test

The purpose of the FSHR Gene Ovarian Dysgenesis Type 1 NGS Genetic Test is to identify pathogenic mutations in the FSHR gene that cause ovarian dysgenesis type 1. This helps in confirming diagnosis, assessing genetic risk, guiding treatment decisions, and informing family planning for affected individuals.

How to Prepare

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

Doctor's Notes

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

"Early genetic testing for FSHR gene mutations can aid in the diagnosis and management of ovarian dysgenesis, improving fertility outcomes and symptom control."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Up to 48 hours at room temperature
Stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or container

Understanding Your Results

Results from the FSHR Gene Ovarian Dysgenesis Type 1 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the FSHR gene. A positive result confirms genetic predisposition to ovarian dysgenesis type 1, while a negative result suggests no detected mutations, though clinical symptoms may still require evaluation.
📊

Pathogenic mutation detected in FSHR gene, confirming diagnosis of ovarian dysgenesis type 1. Genetic counselling and specialist consultation recommended.

Result type: Positive

📊

No pathogenic variants detected. Consider other genetic or non-genetic causes if symptoms persist.

Result type: Negative

📊

A genetic variant was found but its clinical significance is unknown. Further testing and follow-up may be needed.

Result type: Variant of Uncertain Significance (VUS)

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counsellor if you experience symptoms of ovarian dysgenesis, have a family history of the condition, or receive a positive test result for guidance on management and treatment.

Limitations

  • May not detect all genetic variants
  • Results require clinical correlation
  • Does not rule out other causes of ovarian dysfunction

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Incorrect sample storage

Compare With Similar Tests

TestFSHR Gene Ovarian dysgenesis type 1 NGS Genetic TestAMH TestFSH TestKaryotype AnalysisOther Genetic Panels
ComparisonFSHR Gene Ovarian dysgenesis type 1 NGS Genetic TestMeasures anti-Müllerian hormone levels to assess ovarian reserve, but does not identify genetic causes.Evaluates follicle-stimulating hormone levels, often elevated in POI, but not specific to FSHR mutations.Checks for chromosomal abnormalities like Turner syndrome, which can cause ovarian dysgenesis.Broader panels may include multiple genes associated with reproductive disorders.

Frequently Asked Questions

What is the FSHR Gene Ovarian Dysgenesis Type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the FSHR gene, which can cause ovarian dysgenesis type 1, leading to infertility and other symptoms.
Who should consider this test?
Individuals with symptoms like infertility, delayed puberty, or absent periods, or those with a family history of ovarian dysgenesis or primary ovarian insufficiency.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to identify mutations in the FSHR gene.
What is the cost of the test in India?
The test costs INR 20,000, with home sample collection available across India at no extra charge.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally painless.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates a pathogenic mutation in the FSHR gene, confirming genetic predisposition. A negative result means no mutations were detected, but symptoms may still need evaluation.
Is genetic counselling required before testing?
Yes, genetic counselling is recommended to understand the implications of testing and results, and to draw a family pedigree chart.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
Is the test covered by insurance?
Coverage varies by insurance provider. It is advisable to check with your insurer for details.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising. There may be psychological impacts from genetic results.
How accurate is the test?
The NGS technology used is highly accurate for detecting mutations in the FSHR gene, but no test is 100% foolproof. Results should be interpreted in clinical context.
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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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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