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FSHB Gene Follicle-stimulating hormone deficiency, isolated NGS Genetic Test

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FSHB Gene Follicle-stimulating hormone deficiency, isolated NGS Genetic Test

Short Name: FSHB Gene Deficiency NGS Test

Also known as: FSH Deficiency Genetic Test, FSHB Mutation Analysis

FSHB Gene Follicle-stimulating hormone deficiency, isolated 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.

Gynecology🏠 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

The purpose of this test is to diagnose FSHB gene mutations causing isolated follicle-stimulating hormone deficiency, aiding in the identification of genetic causes of reproductive disorders and guiding personalized treatment plans.

Test Code
5529
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood draw or DNA extraction performed by a trained professional.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session and clinical history review to assess indications and family history.
2
During the Test:Sample collection via blood draw and subsequent DNA extraction for NGS analysis.
3
After the Test:Laboratory analysis, report generation, and delivery with genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose FSHB gene mutations causing isolated follicle-stimulating hormone deficiency, aiding in the identification of genetic causes of reproductive disorders and guiding personalized treatment plans.

How to Prepare

  • No fasting required
  • Bring detailed clinical history
  • Genetic counseling recommended prior to testing

Doctor's Notes

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

"Genetic testing for FSHB mutations is crucial for diagnosing isolated FSH deficiency, which can impact fertility. Early detection allows for targeted management and counseling."

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 or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Room temperature: 24 hours
Refrigerated: 72 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FSHB gene. Positive results confirm genetic FSH deficiency, while negative results suggest other causes. Variants of uncertain significance may require further evaluation.
📊

Positive

Pathogenic variant detected, indicating FSHB gene mutation causing FSH deficiency.

📊

Negative

No pathogenic variants detected; FSH deficiency may be due to other factors.

📊

Variant of uncertain significance

Genetic variant found but clinical significance unclear; further testing or family studies recommended.

⚠️ When to Consult a Doctor:

If experiencing symptoms of FSH deficiency such as infertility, delayed puberty, or irregular periods, or if there is a family history of reproductive disorders.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors during sequencing

Compare With Similar Tests

TestFSHB Gene Follicle-stimulating hormone deficiency, isolated NGS Genetic TestFSH Hormone Serum TestKaryotype Analysis
ComparisonFSHB Gene Follicle-stimulating hormone deficiency, isolated NGS Genetic Test

Frequently Asked Questions

What is FSHB gene follicle-stimulating hormone deficiency?
It is a rare genetic disorder caused by mutations in the FSHB gene, leading to reduced production of follicle-stimulating hormone (FSH), which is essential for reproductive function.
What are the common symptoms of this deficiency?
Symptoms include delayed puberty, irregular menstrual cycles, low sperm count, infertility, and early menopause.
How is FSHB gene deficiency diagnosed?
Diagnosis involves blood tests to measure hormone levels, genetic testing to identify FSHB mutations, and a physical examination with medical history evaluation.
What is the isolated NGS Genetic Test for FSHB?
It is a Next-Generation Sequencing test that analyzes the DNA sequence of the FSHB gene to detect mutations causing FSH deficiency.
What is the cost of the FSHB Gene NGS Genetic Test?
The test costs INR 20,000, which includes sample collection, analysis, and report delivery.
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 the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What should I do before getting tested?
Provide your clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.
Can this test detect all mutations in the FSHB gene?
While highly accurate, the test may not detect all possible genetic variants; results should be interpreted in clinical context.
Is genetic counseling included with the test?
Yes, genetic counseling is included to help interpret results and provide guidance on management and family planning.
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

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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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