Skip to main content
DNA Labs India

HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test

Short Name: HSD17B4 Gene NGS Test

Also known as: DBP Deficiency, Peroxisomal Bifunctional Enzyme Deficiency, 17-Beta-Hydroxysteroid Dehydrogenase Type 4 Deficiency, HSD17B4-Related Peroxisomal Disorder, PBFE Deficiency

HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The primary purpose of the HSD17B4 Gene NGS Genetic Test is to confirm or rule out a diagnosis of D-bifunctional protein deficiency at the molecular level. This test is essential for establishing a definitive genetic diagnosis when clinical features or biochemical markers suggest a peroxisomal disorder. It aids in identifying the specific causative mutations, determining carrier status in family members, guiding genetic counselling regarding recurrence risks (25% for autosomal recessive conditions), informing reproductive planning for affected families, and enabling appropriate clinical management and supportive care strategies. In certain cases, identification of specific mutations may help predict disease severity and prognosis.

Test Code
1965
CPT Code
81406
ICD Code
E71.510
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
3 to 4 Weeks from sample receipt at the laboratory
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis
Step 1

Sample Collection

No specific preparation or fasting is required. Ensure the patient's clinical history, family pedigree, and any previous test reports (VLCFA levels, neuroimaging, liver function tests) are available for the genetic counselling session prior to sample collection.

Method: Venipuncture

Step 2

Laboratory Analysis

A 3-5 mL venous blood sample will be collected in an EDTA (lavender-top) vacutainer by a trained phlebotomist. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample is labelled, sealed, and transported under ambient room temperature conditions.

Step 3

Report Delivery

The blood sample is processed in the molecular genetics laboratory where DNA is extracted, quality-checked, and prepared for NGS library preparation. No specific post-collection care is required for the patient. Results are typically available within 3 to 4 weeks and will be communicated via the online portal, email, or WhatsApp.

Timeline: 3 to 4 Weeks from sample receipt at the laboratory

Patient Instructions

1
Before the Test:Before the test, a genetic counselling session will be conducted to document the patient's clinical history, draw a pedigree chart of family members affected with D-bifunctional protein deficiency, and obtain informed consent. No fasting is required. Carry all previous medical records, including VLCFA reports, neuroimaging, liver function test results, and any prior genetic test reports.
2
During the Test:During sample collection, a trained phlebotomist will draw 3-5 mL of blood from a vein in the arm into an EDTA vacutainer. Alternatively, a single drop of blood on an FTA card or extracted DNA may be used. The process typically takes 5-10 minutes. You may feel a brief pinch during needle insertion. No sedation or anaesthesia is required.
3
After the Test:After sample collection, you may resume normal activities immediately. There are no restrictions. The sample is sent to DNA Labs India's molecular genetics laboratory for NGS analysis. Results are typically available in 3 to 4 weeks. A genetic counsellor will contact you to discuss the results, their implications, and next steps.

About This Test

Who Should Get This Test

The primary purpose of the HSD17B4 Gene NGS Genetic Test is to confirm or rule out a diagnosis of D-bifunctional protein deficiency at the molecular level. This test is essential for establishing a definitive genetic diagnosis when clinical features or biochemical markers suggest a peroxisomal disorder. It aids in identifying the specific causative mutations, determining carrier status in family members, guiding genetic counselling regarding recurrence risks (25% for autosomal recessive conditions), informing reproductive planning for affected families, and enabling appropriate clinical management and supportive care strategies. In certain cases, identification of specific mutations may help predict disease severity and prognosis.

How to Prepare

  • Collect 3-5 mL of venous blood in an EDTA (Lavender Top) vacutainer
  • Alternatively, one drop of blood on an FTA card or extracted DNA in TE buffer is acceptable
  • Gently invert the tube 8-10 times to mix blood with the anticoagulant; do not shake vigorously
  • Label the sample clearly with the patient's full name, date of birth, and unique identifier
  • Ensure the sample is stored and transported at ambient room temperature (15-30°C)
  • Avoid heparin-collected samples as heparin can inhibit molecular reactions
  • If using an FTA card, allow the blood spot to air-dry completely before packaging
  • Include the duly filled test requisition form and informed consent document with the sample

Doctor's Notes

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

"D-bifunctional protein deficiency is a severe peroxisomal disorder that often presents in the neonatal period with hypotonia, seizures, and hepatic dysfunction. Early genetic confirmation through NGS-based testing of the HSD17B4 gene allows families to understand recurrence risks, guides management decisions, and facilitates informed family planning. I recommend this test for any infant presenting with unexplained hypotonia, seizures, or features suggestive of a peroxisomal biogenesis disorder. Genetic counselling should accompany all testing to help families interpret results and plan for the future."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-5 mL EDTA Blood
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture

Sample Stability

EDTA whole blood: Stable up to 7 days at ambient room temperature (15-30°C)
Extracted DNA: Stable up to 6 months at -20°C
FTA Card: Stable for several years at room temperature when stored in a sealed bag with desiccant
Sample Rejection Criteria:
  • Sample collected in heparin tube
  • Clotted or haemolysed blood sample
  • Insufficient sample volume (less than 2 mL)
  • Unlabelled, mislabelled, or mismatched sample and requisition form
  • Sample received without completed informed consent or test requisition form
  • Contaminated FTA card or degraded DNA sample

Understanding Your Results

The results of the HSD17B4 Gene NGS Genetic Test should be interpreted in the context of the patient's clinical presentation, family history, and supporting biochemical investigations. Detection of two pathogenic or likely pathogenic variants in the HSD17B4 gene in trans (one on each allele) confirms the diagnosis of D-bifunctional protein deficiency in an affected individual. Identification of a single pathogenic variant indicates carrier status. A negative result does not entirely exclude the diagnosis, especially if clinical suspicion remains high, and further investigation may be warranted.
📊

Two pathogenic or likely pathogenic variants detected in trans

Diagnostic – explains clinical phenotype. Recurrence risk for future pregnancies is 25%.

📊

One pathogenic or likely pathogenic variant detected

Carrier status confirmed. Genetic counselling recommended for family planning. Partner testing advised.

📊

Variant(s) of Uncertain Significance (VUS) detected

Inconclusive. Re-analysis may be performed as new data becomes available. Not to be used alone for clinical decision-making.

📊

No pathogenic variants detected

Negative. If clinical suspicion persists, consider VLCFA testing, whole-exome sequencing, or analysis of other peroxisomal genes.

📊

Known familial variant analysis

Can confirm carrier status or affected status when a known family mutation is being tested.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, metabolic disease specialist, or paediatric neurologist if your child presents with poor muscle tone, seizures, developmental delay, vision or hearing problems, or liver dysfunction. If the genetic test result shows pathogenic variants, VUS, or if you are identified as a carrier, seek genetic counselling to understand the implications, recurrence risks, and available management options. Families with a known history of peroxisomal disorders should consult a genetic counsellor before planning future pregnancies.

Limitations

  • ⚠This test does not detect large deletions, duplications, or chromosomal rearrangements unless specifically analysed using a CNV detection algorithm
  • ⚠Deep intronic variants and regulatory region mutations outside the targeted sequencing regions may not be identified
  • ⚠Variants of Uncertain Significance (VUS) may be reported and require clinical correlation and family studies for interpretation
  • ⚠A negative result does not completely exclude D-bifunctional protein deficiency if caused by mutations in other genes involved in peroxisomal beta-oxidation (e.g., HSD17B4 regulatory regions or epigenetic changes)
  • ⚠This test is not a substitute for biochemical confirmation through VLCFA analysis and phytanic acid levels

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site, which typically resolves within 1-2 days
  • ●Very small risk of infection at the needle insertion site (standard aseptic precautions are followed)
  • ●Emotional impact of receiving genetic test results, particularly if pathogenic variants are detected; genetic counselling is provided to support patients and families
  • ●Identification of Variants of Uncertain Significance (VUS) may cause anxiety; counselling helps contextualize such findings

Interfering Factors

  • ●Degraded or insufficient DNA quality in the submitted sample may affect sequencing coverage and accuracy
  • ●Recent blood transfusion (within 30 days) may lead to mixed DNA profiles and inaccurate results
  • ●Presence of large genomic rearrangements or copy number variations (CNVs) not detectable by standard NGS gene panel analysis
  • ●Somatic mosaicism may result in variants being present at levels below the detection threshold
  • ●Heparin-contaminated blood samples can interfere with downstream molecular assays

Compare With Similar Tests

TestHSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test
ComparisonHSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test

Frequently Asked Questions

What is D-bifunctional protein deficiency?
D-bifunctional protein deficiency (DBP deficiency) is a rare autosomal recessive peroxisomal disorder caused by mutations in the HSD17B4 gene. It impairs the peroxisomal beta-oxidation of very long-chain fatty acids, leading to accumulation of toxic lipid substrates. The condition primarily affects the nervous system, liver, and other organs, and can range from severe neonatal-onset to milder later-onset forms.
What is the HSD17B4 gene and what does it do?
The HSD17B4 gene provides instructions for making the D-bifunctional protein, an enzyme located in peroxisomes. This enzyme has two catalytic activities—enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase—both essential for the beta-oxidation of very long-chain fatty acids and branched-chain fatty acids. Mutations in this gene lead to deficiency of the enzyme and accumulation of these fatty acids.
How is D-bifunctional protein deficiency inherited?
D-bifunctional protein deficiency follows an autosomal recessive inheritance pattern. This means the affected individual inherits two copies of the mutated HSD17B4 gene—one from each parent. Both parents are typically carriers (one normal and one mutated copy) and usually do not show symptoms. When both parents are carriers, each pregnancy carries a 25% chance of the child being affected.
What are the symptoms of HSD17B4 gene D-bifunctional protein deficiency?
Symptoms vary in severity and may include poor muscle tone (hypotonia), seizures, delayed developmental milestones, liver dysfunction (hepatomegaly, cholestasis), visual impairment (retinopathy), hearing loss, distinctive facial features, and skeletal abnormalities. Some patients may experience metabolic crises characterized by vomiting, dehydration, and low blood sugar (hypoglycaemia). Severe forms present at birth, while milder forms may appear later in childhood.
Who should get the HSD17B4 Gene NGS Genetic Test?
This test is recommended for individuals with clinical features suggestive of a peroxisomal disorder, abnormal very long-chain fatty acid (VLCFA) levels, abnormal newborn screening results, a family history of D-bifunctional protein deficiency or other peroxisomal disorders, and parents who are known carriers seeking prenatal or preconception testing.
What sample is required for the HSD17B4 Gene NGS Genetic Test?
The test requires a 3-5 mL blood sample collected in an EDTA (lavender-top) vacutainer. Alternatively, extracted DNA or one drop of blood on an FTA card can be submitted. No fasting is required prior to sample collection.
How long does it take to get the results of the HSD17B4 Gene NGS Genetic Test?
Results are typically available within 3 to 4 weeks from the date the sample is received at the DNA Labs India laboratory. Results are shared via the online portal, email, or WhatsApp. In some cases, if additional confirmation testing (Sanger sequencing) is required, the turnaround time may be slightly longer.
What is the cost of the HSD17B4 Gene NGS Genetic Test in India?
The cost of the HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test at DNA Labs India is Rs 20000. This price includes sample collection (free home collection available), NGS sequencing, bioinformatics analysis, variant classification, genetic counselling, the clinical report, and raw data files (FASTQ and VCF).
Does DNA Labs India provide raw data and FASTQ/VCF files?
Yes. DNA Labs India is one of the few laboratories in India that is transparent about data sharing. Along with the clinical test report, we provide raw sequencing data including FASTQ and VCF files for the HSD17B4 Gene NGS Genetic Test. This allows patients and their physicians to store the data, seek second opinions, or re-analyse the data as new scientific information becomes available.
Is genetic counselling included with the test?
Yes. A genetic counselling session is included before and after the HSD17B4 Gene NGS Genetic Test. Before testing, a counsellor will document the clinical history and draw a family pedigree chart. After testing, the counsellor will explain the results, their implications, recurrence risks, and management options. This service is part of the Rs 20000 test fee.
Can this test be done during pregnancy (prenatal testing)?
Yes, prenatal testing for D-bifunctional protein deficiency can be performed if the familial mutations in the HSD17B4 gene are already known. Samples such as chorionic villus sampling (CVS) at 10-13 weeks or amniocentesis at 15-18 weeks can be used. Please consult your obstetrician or genetic counsellor to discuss the timing, risks, and implications of prenatal genetic testing.
Is free home sample collection available for this test?
Yes. DNA Labs India offers free home sample collection for the HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test when booked online. This service is available across numerous cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, Jaipur, Lucknow, Chandigarh, and many more. A trained phlebotomist will visit your home to collect the blood sample at a convenient time.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.