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HESX1 Gene Septooptic dysplasia NGS Genetic Test

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HESX1 Gene Septooptic dysplasia NGS Genetic Test

Short Name: HESX1 Gene Septooptic Dysplasia NGS Test

Also known as: Septo-optic dysplasia, SOD, De Morsier syndrome

HESX1 Gene Septooptic dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

Pediatrics🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of the HESX1 Gene Septooptic Dysplasia NGS Genetic Test is to identify pathogenic mutations in the HESX1 gene, enabling definitive diagnosis of Septooptic Dysplasia. This facilitates early intervention, genetic counseling, and tailored management strategies to address vision, hormonal, and developmental issues.

Test Code
2809
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or FTA Card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis; monitor for any post-collection discomfort.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and test implications.
2
During the Test:Blood sample collection; procedure takes about 10-15 minutes.
3
After the Test:Results delivered in 3-4 weeks; follow-up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of the HESX1 Gene Septooptic Dysplasia NGS Genetic Test is to identify pathogenic mutations in the HESX1 gene, enabling definitive diagnosis of Septooptic Dysplasia. This facilitates early intervention, genetic counseling, and tailored management strategies to address vision, hormonal, and developmental issues.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection tubes
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic testing for HESX1 mutations can guide treatment and management for Septooptic Dysplasia, improving patient outcomes."

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 FTA Card collection

Sample Stability

Blood sample 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
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of mutations in the HESX1 gene. Positive results confirm Septooptic Dysplasia, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of Septooptic Dysplasia; genetic counseling and specialist referral recommended.

📊

Negative for pathogenic variant

No mutations detected; consider other genetic or clinical evaluations if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms like vision issues, hormonal problems, or developmental delays are present, or after receiving test results.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage

Compare With Similar Tests

TestHESX1 Gene Septooptic dysplasia NGS Genetic Test
ComparisonHESX1 Gene Septooptic dysplasia NGS Genetic Test

Frequently Asked Questions

What is Septooptic Dysplasia?
Septooptic Dysplasia is a rare genetic condition affecting the optic nerve, pituitary gland, and brain, leading to vision, hormonal, and developmental issues.
What causes Septooptic Dysplasia?
It is primarily caused by mutations in the HESX1 gene, which is involved in early development of these structures.
How is the HESX1 Gene Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample for mutations in the HESX1 gene.
What are the symptoms of Septooptic Dysplasia?
Symptoms include vision problems, hormonal deficiencies, developmental delays, and seizures.
Who should consider this genetic test?
Individuals with symptoms of Septooptic Dysplasia, family history of the condition, or abnormal imaging findings.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising; psychological support may be needed.
Can this test detect all mutations?
NGS is comprehensive but may not detect all mutation types; additional testing might be needed in some cases.
How accurate is the HESX1 Gene Test?
The test is highly accurate for detecting known pathogenic variants in the HESX1 gene, confirming diagnosis when present.
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

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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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