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HEXB Gene Sandhoff disease NGS Genetic Test

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HEXB Gene Sandhoff disease NGS Genetic Test

HEXB Gene Sandhoff disease 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🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Sandhoff disease by detecting mutations in the HEXB gene using Next Generation Sequencing, enabling early intervention and genetic counseling.

Test Code
2239
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 specific preparation required. Inform the lab of any medications or supplements.

Method: Blood draw or cheek swab

Step 2

Laboratory Analysis

A blood sample is drawn from a vein in the arm. For cheek swab, rub the inside of the cheek.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. No restrictions post-collection.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand the test implications.
2
During the Test:The test involves DNA sequencing in a controlled laboratory environment.
3
After the Test:Results are analyzed and reported with detailed interpretation.

About This Test

Who Should Get This Test

To diagnose Sandhoff disease by detecting mutations in the HEXB gene using Next Generation Sequencing, enabling early intervention and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Follow sample handling protocols

Doctor's Notes

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

"As a specialist in genetic disorders, I recommend this test for early detection and management of Sandhoff disease, especially in families with a history of metabolic conditions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or cheek swab

Sample Stability

Blood samples are stable at room temperature for 24 hours
Extracted DNA can be stored at -20°C for long-term
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the HEXB gene associated with Sandhoff disease.
Positive result: Pathogenic variant detected, consistent with Sandhoff disease
Negative result: No pathogenic variants detected, but clinical correlation is recommended
Variant of uncertain significance: Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms suggest Sandhoff disease or for family planning advice after positive results.

Limitations

  • ⚠Test does not detect all possible genetic variants
  • ⚠Results should be interpreted in conjunction with clinical findings

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection
  • ●No direct risks from genetic testing itself

Frequently Asked Questions

What is Sandhoff disease?
Sandhoff disease is a rare genetic disorder caused by mutations in the HEXB gene, leading to a deficiency of beta-hexosaminidase enzyme and accumulation of gangliosides, resulting in neurological deterioration.
How is Sandhoff disease diagnosed?
Diagnosis involves clinical evaluation, family history, and genetic testing such as the HEXB Gene NGS Genetic Test to identify mutations in the HEXB gene.
What is the cost of HEXB Gene Sandhoff Disease NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
How is the test performed?
The test uses Next Generation Sequencing to analyze DNA from a blood sample or cheek swab for mutations in the HEXB gene.
What are the symptoms of Sandhoff disease?
Symptoms include delayed development, seizures, muscle weakness, difficulty swallowing, loss of vision and hearing, and intellectual disability.
Is genetic testing necessary for Sandhoff disease?
Yes, genetic testing is essential for accurate diagnosis, especially for symptoms or family history of the disease.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the HEXB gene, confirming Sandhoff disease diagnosis.
Can Sandhoff disease be treated?
There is no cure, but early diagnosis allows for symptomatic management and supportive care to improve quality of life.
Who should get this test?
Individuals with symptoms of Sandhoff disease, a family history of the condition, or those seeking genetic counseling.
Is the test covered by insurance?
Coverage depends on the insurance plan; it is not typically covered under government schemes like PMJAY or CGHS, but check with your provider.
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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