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HPS4 Gene Hermansky Pudlak Syndrome Type 4 NGS Genetic Test

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HPS4 Gene Hermansky Pudlak Syndrome Type 4 NGS Genetic Test

Short Name: HPS4 NGS Test

Also known as: HPS4 Genetic Test, HPS4 Gene Sequencing, Hermansky Pudlak Syndrome Type 4 NGS Test

HPS4 Gene Hermansky Pudlak Syndrome Type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks from the receipt of the sample.. Free home collection in 300+ cities across India.

Genetic / NGSAll 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

To confirm a clinical diagnosis of Hermansky-Pudlak Syndrome Type 4 by identifying pathogenic variants in the HPS4 gene.

Test Code
3837
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks from the receipt of the sample.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger confirmation
Step 1

Sample Collection

No special preparation required. A genetic counselling session is recommended before testing to understand the benefits, risks, and limitations of the test.

Method: Peripheral blood draw or FTA card sample

Step 2

Laboratory Analysis

A small blood sample will be drawn from the arm or a few drops of blood will be collected on an FTA card. The procedure is quick and painless.

Step 3

Report Delivery

No restrictions. You may resume normal activities. Report will be delivered in 3-4 weeks.

Timeline: Reports are typically available within 3 to 4 weeks from the receipt of the sample.

Patient Instructions

1
Before the Test:No special preparation is required. A pre-test genetic counselling session is advised for all patients.
2
During the Test:A small blood sample is collected. The procedure takes only a few minutes.
3
After the Test:You can resume your normal routine immediately after sample collection.

About This Test

Who Should Get This Test

To confirm a clinical diagnosis of Hermansky-Pudlak Syndrome Type 4 by identifying pathogenic variants in the HPS4 gene.

How to Prepare

  • Blood sample: EDTA vacutainer (2 ml)
  • FTA card: Spot whole blood on the marked circles
  • Extracted DNA: 1 µg in a sterile tube
  • Ship at ambient temperature

Doctor's Notes

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

"For patients presenting with albinism or unexplained bleeding, an accurate genetic diagnosis can guide management and surveillance for systemic complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 ml whole blood / 1 µg DNA / FTA spot
ContainerEDTA Vacutainer / FTA Card / Sterile tube
Collection MethodPeripheral blood draw or FTA card sample

Sample Stability

Blood: 3-5 days at room temperature
DNA: Stable for months at -20°C
FTA card: Stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood samples
  • Insufficient quantity of sample
  • Incorrect labeling
  • Sample in heparin tube (not recommended)

Understanding Your Results

The result of this NGS genetic test provides information about the presence or absence of pathogenic variants in the HPS4 gene. A positive result is diagnostic for HPS4 but does not predict severity or specific manifestations. Genetic counselling is recommended.
Negative: No pathogenic variants detected. A clinical diagnosis of HPS4 is less likely, but other HPS types should be considered.
Positive: Pathogenic or likely pathogenic variant(s) detected. Confirms the diagnosis of HPS4. Results should be correlated with clinical findings.
Variant of Uncertain Significance (VUS): A variant with unknown clinical significance is reported. Further family studies and functional analysis may help clarify its role.
⚠️ When to Consult a Doctor:

Consult your doctor or genetic counsellor when you have symptoms suggestive of HPS4, a family history of the condition, or if you require carrier testing before planning a family.

Limitations

  • ⚠NGS may not detect large structural rearrangements or deep intronic variants beyond analyzed regions
  • ⚠Variant classification may evolve with new literature
  • ⚠This test is not a substitute for comprehensive clinical evaluation

Risks & Considerations

  • ●Bruising or discomfort at the needle site
  • ●Rare risk of infection
  • ●Emotional impact of potential positive result

Interfering Factors

  • ●Maternal contamination in prenatal samples
  • ●Bone marrow transplant or recent blood transfusion
  • ●Low DNA quality or quantity
  • ●Clinical misdiagnosis or overlapping phenotype

Frequently Asked Questions

What is Hermansky-Pudlak Syndrome Type 4 (HPS4)?
HPS4 is a rare inherited disorder characterized by albinism, bleeding tendency, and in some cases lung and bowel disease. It is caused by mutations in the HPS4 gene.
Who should get this HPS4 NGS genetic test?
Individuals with clinical features suggestive of HPS4, such as oculocutaneous albinism and bleeding disorders, or those with a family history of HPS4.
What does the test detect?
The test uses next-generation sequencing to detect mutations (pathogenic variants) in the HPS4 gene that cause HPS4.
What is the cost of the HPS4 gene test at DNA Labs India?
The test costs INR 20,000. This includes home sample collection and the clinical report along with raw data files.
What samples are accepted for this test?
Blood (EDTA tube), extracted DNA, or one drop blood on FTA card. The test requires a small blood sample.
Is fasting required before the test?
No, fasting is not required. You can take the test at any time of the day.
What is the turnaround time for results?
Reports are delivered within 3 to 4 weeks after the sample is received at the laboratory.
Will I receive raw data along with the report?
Yes, DNA Labs India provides raw data files (FASTQ and VCF) along with the conclusive clinical report for complete transparency.
What is the significance of a positive test result?
A positive result confirms the diagnosis of HPS4, which helps guide medical management, surveillance, and genetic counselling.
Can this test be done during pregnancy?
For prenatal testing, please consult with a clinical geneticist for appropriate sampling. This test can be performed on suitable samples with prior counselling.
Are there any risks associated with this test?
The blood draw is minimally invasive and carries only minor risks like small bruising. No significant health risks are associated.
How should I prepare for the genetic counselling session?
Bring your family medical history and information about any related symptoms. This helps the counsellor draw a pedigree and interpret the test results appropriately.
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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✓ 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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