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SEMA3A Gene Kallmann syndrome, SEMA3A related NGS Genetic Test

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SEMA3A Gene Kallmann syndrome, SEMA3A related NGS Genetic Test

Also known as: SEMA3A Gene Test, Kallmann Syndrome Genetic Test, SEMA3A NGS Test

SEMA3A Gene Kallmann syndrome, SEMA3A related 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the SEMA3A gene for the diagnosis of Kallmann syndrome and related disorders.

Test Code
2610
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Kallmann syndrome.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology. Results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection and DNA extraction.
3
After the Test:Analysis and report generation.

About This Test

Who Should Get This Test

To identify mutations in the SEMA3A gene for the diagnosis of Kallmann syndrome and related disorders.

How to Prepare

  • Use sterile equipment
  • Label sample correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Genetic testing for SEMA3A mutations is essential for confirming Kallmann syndrome diagnosis, enabling timely intervention and management of symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SEMA3A gene.
📊

Positive for pathogenic mutation

Confirms diagnosis of Kallmann syndrome related to SEMA3A gene mutation.

📊

Negative for pathogenic mutation

No SEMA3A mutations detected; consider other genetic or non-genetic causes.

📊

Variant of uncertain significance (VUS)

Further testing and clinical correlation recommended.

⚠️ When to Consult a Doctor:

If symptoms of delayed puberty or anosmia are present, or if genetic test results are positive or uncertain.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of uncertain significance (VUS) may be identified
  • ⚠Does not rule out other genetic causes of Kallmann syndrome

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during sample processing

Frequently Asked Questions

What is Kallmann syndrome?
Kallmann syndrome is a rare genetic disorder characterized by delayed or absent puberty and an impaired sense of smell (anosmia).
What is the role of the SEMA3A gene?
The SEMA3A gene encodes a protein involved in nervous system development; mutations can lead to Kallmann syndrome by causing GnRH deficiency.
How is Kallmann syndrome diagnosed?
Diagnosis involves physical exams, hormone tests, and genetic testing such as SEMA3A gene sequencing via NGS.
What does the SEMA3A genetic test involve?
It uses next-generation sequencing (NGS) to analyze the SEMA3A gene for mutations from a blood or DNA sample.
What is the cost of the test?
The SEMA3A Gene NGS Genetic Test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks.
What are the symptoms of Kallmann syndrome?
Symptoms include delayed puberty, anosmia, abnormal eye movements, cleft palate, hearing loss, and abnormal tooth development.
Can Kallmann syndrome be treated?
Treatment focuses on hormone replacement therapy to induce puberty and manage symptoms, guided by genetic diagnosis.
Is genetic testing necessary for diagnosis?
Yes, genetic testing helps confirm the diagnosis, identify specific mutations, and guide management.
What if the test result is positive?
A positive result confirms SEMA3A-related Kallmann syndrome, enabling targeted treatment and genetic counseling.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, with no significant medical risks.
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.

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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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