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HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test

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HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test

Short Name: HSD17B4 Gene Test

Also known as: DBP deficiency, Peroxisomal disorder, HSD17B4-related disorder

HSD17B4 Gene D-bifunctional protein deficiency 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🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 3, 2026

Overview

The purpose of this test is to identify mutations in the HSD17B4 gene to confirm a diagnosis of D-bifunctional protein deficiency, guide clinical management, and provide information for genetic counseling and family planning.

Test Code
2709
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. Provide clinical history and family pedigree information during genetic counseling.

Method: Blood draw

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist. For FTA card collection, a drop of blood is applied to the card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store samples as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Sample collection via blood draw or FTA card. The process is minimally invasive and takes a few minutes.
3
After the Test:Results are delivered in 3 to 4 weeks. Follow-up with a genetic counselor or physician for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the HSD17B4 gene to confirm a diagnosis of D-bifunctional protein deficiency, guide clinical management, and provide information for genetic counseling and family planning.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples accurately with patient details

Doctor's Notes

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

"This NGS genetic test is essential for early and accurate diagnosis of D-bifunctional protein deficiency, enabling timely management and genetic counseling for affected families."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples 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
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the HSD17B4 gene. Positive results confirm D-bifunctional protein deficiency, while negative results may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of D-bifunctional protein deficiency. Genetic counseling and management recommended.

📊

No pathogenic variant detected

Reduces likelihood of HSD17B4-related deficiency, but clinical correlation is advised. Consider other genetic tests if symptoms persist.

📊

Variant of uncertain significance (VUS)

Further testing and family studies may be needed. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

Consult a healthcare provider or genetic specialist if symptoms such as developmental delay, seizures, or visual problems are present, or if there is a family history of peroxisomal disorders.

Limitations

  • ⚠May not detect all possible genetic variants, including deep intronic mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection at the puncture site

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is HSD17B4 Gene D-bifunctional protein deficiency?
It is a rare genetic disorder caused by mutations in the HSD17B4 gene, leading to impaired fat breakdown and symptoms like developmental delay and seizures.
What are the common symptoms of this condition?
Symptoms include delayed development, low muscle tone, enlarged liver, seizures, ataxia, and visual problems.
How is HSD17B4 Gene D-bifunctional protein deficiency diagnosed?
Diagnosis is confirmed through genetic testing, such as this NGS test, which detects mutations in the HSD17B4 gene.
What is the cost of the NGS Genetic Test at DNA Labs India?
The test costs INR 20000, with home sample collection available across India.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
What should I do if the test results are positive?
Consult a genetic counselor or healthcare provider for interpretation, management options, and genetic counseling.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. For prenatal testing, consult a specialist for appropriate genetic tests.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic testing itself has no physical risks.
Is genetic counseling included with the test?
Yes, a genetic counseling session is included to discuss results, family history, and implications.
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

Your Data Privacy

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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