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HSD17B4 Gene Perrault syndrome NGS Genetic Test

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HSD17B4 Gene Perrault syndrome NGS Genetic Test

Short Name: HSD17B4 Perrault NGS

Also known as: HSD17B4 gene sequencing, Perrault syndrome NGS gene test, PMEP2 gene mutation analysis

HSD17B4 Gene Perrault syndrome 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 Reports are delivered 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups🏠 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 purpose of this test is to identify disease-causing pathogenic variants in the HSD17B4 gene, confirm or rule out Perrault syndrome type 1, and provide molecular information required for genetic counselling and reproductive decision-making in affected families.

Test Code
4456
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended before sample collection to document clinical history and prepare a pedigree chart.

Method: Peripheral blood draw / FTA card spot / extracted DNA submission

Step 2

Laboratory Analysis

A small blood sample will be collected from a vein in the arm. If using an FTA card, one drop of blood is placed on the marked circles on the card.

Step 3

Report Delivery

No special precautions are needed after sample collection. The patient can resume normal daily activities immediately.

Timeline: Reports are delivered 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:No special medical preparation is required. The treating doctor may request a genetic counselling session and a family pedigree chart before testing.
2
During the Test:The test involves a standard blood sample collection. For blood spot collection, a small finger-prick may be used instead of a venous draw.
3
After the Test:There are no activity restrictions after sample collection. The laboratory will provide the report in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing pathogenic variants in the HSD17B4 gene, confirm or rule out Perrault syndrome type 1, and provide molecular information required for genetic counselling and reproductive decision-making in affected families.

How to Prepare

  • Collect blood in an EDTA vacutainer.
  • For FTA card, apply one drop of blood onto each pre-marked circle.
  • Label the sample tube/card with the patient's full name, date of birth and date of collection.
  • Store EDTA blood at 2-8 degree Celsius until shipment.
  • Ship the sample to DNA Labs India within 72 hours if using whole blood.

Doctor's Notes

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

"In females with sensorineural hearing loss and clinical features of ovarian dysfunction, targeted genetic testing of HSD17B4 can provide a molecular diagnosis and guide reproductive counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirement; EDTA blood or FTA card sample acceptable
ContainerEDTA vacutainer / FTA card / sterile DNA tube
Collection MethodPeripheral blood draw / FTA card spot / extracted DNA submission

Sample Stability

Whole blood in EDTA: 2-8 degree Celsius for up to 72 hours
Extracted DNA: At -20 degree Celsius or below
FTA card: Room temperature, away from direct sunlight and moisture
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Insufficient sample quantity
  • Improperly labelled sample
  • Sample received beyond the documented stability period
  • Unbroken cold chain for whole blood shipment

Understanding Your Results

The interpretation of this NGS genetic test should be performed by a clinical geneticist or a doctor with genetics expertise. Results are always interpreted in the context of clinical history, family pedigree and other diagnostic findings.
📊

Molecular diagnosis of Perrault syndrome type 1 is confirmed in the appropriate clinical context.

📊

HSD17B4-related Perrault syndrome is less likely, but other genes should be considered if clinical suspicion remains.

📊

Insufficient evidence exists to classify this variant as disease-causing; further family studies and additional testing may be required.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child have unexplained hearing loss, delayed puberty, ovarian dysfunction, neurological symptoms, short stature, or a family history of Perrault syndrome. A clinician can help decide whether HSD17B4 gene testing is appropriate.

Limitations

  • ⚠This test targets only the HSD17B4 gene and does not analyse other genes associated with Perrault syndrome such as CLPP.
  • ⚠NGS may not reliably detect large structural rearrangements, deep intronic variants, or epigenetic abnormalities.
  • ⚠Variant classification may change over time as new evidence emerges.
  • ⚠A negative result does not exclude all genetic causes of Perrault syndrome.

Risks & Considerations

  • ●Mild pain or discomfort at the blood collection site
  • ●Small bruise around the puncture area
  • ●Rare risk of infection or excessive bleeding from venipuncture

Interfering Factors

  • ●DNA degradation due to prolonged storage or shipping
  • ●Sample contamination with another individual's DNA
  • ●Technical NGS artifacts such as allele drop-out
  • ●Presence of biological mosaicism

Frequently Asked Questions

What is the cost of the HSD17B4 gene Perrault syndrome NGS test at DNA Labs India?
The test costs INR 20000 (Rs 20000.0). This includes NGS genetic testing, clinical interpretation, raw data files and free home sample collection in many cities.
What sample is accepted for the HSD17B4 Perrault syndrome NGS test?
We accept blood, extracted DNA, or one drop of blood collected on an FTA card.
Is fasting required before this genetic test?
No, fasting is not required for this HSD17B4 gene NGS genetic test.
What is the turnaround time for reports?
Reports are provided within 3 to 4 weeks after the sample reaches the laboratory.
Does DNA Labs India provide raw data with the clinical report?
Yes, DNA Labs India shares Raw Data, FASTQ and VCF files along with the conclusive clinical report to ensure full transparency.
Is home sample collection available for this test?
Yes, we offer free home sample collection for online bookings across multiple cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata and many others.
What is Perrault syndrome?
Perrault syndrome is a rare autosomal recessive disorder characterised by sensorineural hearing loss and, in females, ovarian dysfunction. It may also involve neurological problems, delayed puberty, short stature and cardiac defects.
What does the HSD17B4 gene do?
The HSD17B4 gene encodes peroxisomal multifunctional enzyme type 2, which is involved in fatty acid breakdown and energy production. Mutations in this gene are associated with Perrault syndrome type 1.
Who should undergo the HSD17B4 Perrault syndrome NGS test?
People with hearing loss and ovarian dysfunction, clinical features suggestive of Perrault syndrome, a family history of the condition, or an unexplained combination of hearing loss and neurological symptoms should consider testing.
Does this test detect both types of Perrault syndrome?
No, this test specifically analyses the HSD17B4 gene associated with Perrault syndrome type 1. A separate CLPP gene test is needed for Perrault syndrome type 2.
How accurate is NGS genetic testing for HSD17B4?
NGS is a highly sensitive method for detecting sequence variants in the targeted gene. However, no test is 100% comprehensive because some variant types may not be identified by standard NGS.
Is this genetic test covered by insurance?
Insurance coverage varies by policy and provider. PMJAY, CGHS, ECHS and ESIC do not currently cover this test. You should check with your private insurer before booking.
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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