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FGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia NGS Genetic Test

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FGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia NGS Genetic Test

Short Name: FGF8 NGS Test

Also known as: FGF8 Gene Mutation Test, HH6 Genetic Test, Kallmann Syndrome Genetic Test

FGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia 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 TestPediatric, Adolescent, Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this NGS genetic test is to identify mutations in the FGF8 gene that cause Hypogonadotropic Hypogonadism Type 6. This test aids in confirming a clinical diagnosis, differentiating from other forms of hypogonadism, guiding treatment decisions, and enabling family planning through genetic counseling.

Test Code
5798
CPT Code
81407
ICD Code
E23.0
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. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No specific aftercare required. You can resume normal activities immediately.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation is needed. However, a genetic counseling session is recommended to understand the purpose, risks, and benefits of the test.
2
During the Test:A blood sample will be drawn from a vein in your arm. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. Results will be available in 3-4 weeks and will be communicated via your preferred method.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify mutations in the FGF8 gene that cause Hypogonadotropic Hypogonadism Type 6. This test aids in confirming a clinical diagnosis, differentiating from other forms of hypogonadism, guiding treatment decisions, and enabling family planning through genetic counseling.

How to Prepare

  • Ensure the sample is collected in the provided EDTA tube or FTA card.
  • Label the sample with patient's name and date of birth.
  • Transport the sample to the laboratory at ambient temperature.
  • Avoid hemolysis or clotting of blood sample.

Doctor's Notes

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

"Genetic testing for FGF8 mutations is crucial for confirming the diagnosis of Hypogonadotropic Hypogonadism Type 6, guiding appropriate hormone replacement therapy and family counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA tube: 24-48 hours at room temperature
Extracted DNA: 1 week at 2-8°C
FTA card: Stable for months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged delay without proper storage

Understanding Your Results

The test report will indicate whether any pathogenic or likely pathogenic variants were identified in the FGF8 gene. If a variant is found, it will be classified according to ACMG guidelines.
📊

Confirms the diagnosis of Hypogonadotropic Hypogonadism Type 6. Genetic counseling is recommended for family members.

📊

Highly suggestive of disease; clinical correlation required.

📊

Cannot be definitively classified; further testing or family studies may be needed.

📊

Does not rule out HH; other genetic or non-genetic causes should be considered.

⚠️ When to Consult a Doctor:

If you or your child experience symptoms such as delayed puberty, infertility, or anosmia, consult an endocrinologist or geneticist for evaluation and possible genetic testing.

Limitations

  • ⚠This test only analyzes the FGF8 gene; mutations in other genes associated with HH may not be detected.
  • ⚠Variant of uncertain significance (VUS) may be reported; further testing may be required.
  • ⚠NGS may not detect large deletions/duplications or deep intronic variants.
  • ⚠Test results should be interpreted in the context of clinical findings and family history.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for uncertain results (VUS)

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Recent blood transfusion (within 2 weeks)
  • ●Bone marrow transplantation
  • ●Incorrect sample labeling

Compare With Similar Tests

TestFGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia NGS Genetic TestKAL1 Gene SequencingFGFR1 Gene SequencingPROKR2 Gene SequencingHypogonadotropic Hypogonadism Panel (Multi-gene)
ComparisonFGF8 Gene Hypogonadotropic hypogonadism type 6 with or without anosmia NGS Genetic Test

Frequently Asked Questions

What is Hypogonadotropic Hypogonadism Type 6?
Hypogonadotropic Hypogonadism Type 6 (HH6) is a rare genetic disorder caused by mutations in the FGF8 gene, leading to deficient gonadotropin secretion and impaired sex hormone production. It may occur with or without anosmia (Kallmann syndrome).
How is the FGF8 gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the FGF8 gene for mutations. A blood sample or extracted DNA is required.
What is the cost of the FGF8 gene test?
The cost is Rs 20000, which includes genetic counseling and the NGS analysis. Free home sample collection is available across India.
Who should consider this genetic test?
Individuals with symptoms of hypogonadotropic hypogonadism, such as delayed puberty, infertility, low libido, or anosmia, and those with a family history of the condition.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after the sample is received by the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can the test be done on children?
Yes, the test can be performed on children, especially if they show signs of delayed puberty or other symptoms.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the FGF8 gene, confirming the diagnosis of HH6. Genetic counseling is recommended.
What if no mutation is found?
If no mutation is found, it does not rule out HH6, as other genes may be involved. Further testing may be recommended.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in over 200 cities across India.
Will insurance cover the cost?
Insurance coverage varies. It is advisable to check with your insurance provider. The test is not covered under government schemes like PMJAY or CGHS.
How accurate is the NGS test?
NGS is highly accurate and can detect even small mutations in the FGF8 gene with high sensitivity and specificity.
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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