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HPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic Test

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HPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic Test

Short Name: HPS1 Gene NGS Test

Also known as: HPS1 gene sequencing, HPS1 mutation analysis, Hermansky-Pudlak syndrome type 1 genetic test, HPS1 Next-Generation Sequencing

HPS1 Gene Hermansky-Pudlak Syndrome Type 1 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 Samples are processed after receipt; reports are generally available in 3 to 4 weeks.. Free home collection in 300+ cities across India.

NGS 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 purpose of this test is to identify disease-causing variants in the HPS1 gene. It helps confirm a clinical diagnosis of Hermansky-Pudlak syndrome type 1, supports carrier testing in at-risk family members, and assists in genetic counselling for reproductive and medical management decisions.

Test Code
3843
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Samples are processed after receipt; reports are generally available in 3 to 4 weeks.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counselling session is recommended to record clinical history and draw a pedigree. Please bring any previous laboratory reports and imaging studies related to albinism, bleeding, or pulmonary fibrosis.

Method: Peripheral blood draw or finger-prick FTA card / dried blood spot

Step 2

Laboratory Analysis

A blood sample will be collected from a vein into an EDTA vacutainer. Alternatively, a finger-prick blood spot may be applied to an FTA card. No special medications or anaesthesia are required.

Step 3

Report Delivery

After sample collection, the patient may resume normal activities. The sample should be labelled properly and transported according to laboratory instructions. Reports are generally issued in 3 to 4 weeks.

Timeline: Samples are processed after receipt; reports are generally available in 3 to 4 weeks.

Patient Instructions

1
Before the Test:No special preparation is required. The patient should complete the genetic counselling session and provide informed consent where required. A detailed family pedigree is helpful for interpretation.
2
During the Test:The test involves a simple blood draw or FTA card blood spot collection. No fasting or sedation is required.
3
After the Test:The sample is processed in the laboratory. The patient can resume normal activities. Reports are shared through the online portal, email, or WhatsApp within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the HPS1 gene. It helps confirm a clinical diagnosis of Hermansky-Pudlak syndrome type 1, supports carrier testing in at-risk family members, and assists in genetic counselling for reproductive and medical management decisions.

How to Prepare

  • No fasting required.
  • Pre-test genetic counselling is recommended; bring family history and clinical notes.
  • For FTA card sample, apply one drop of blood to the marked circles and allow it to air dry.
  • Label the sample tube or FTA card with the patient's name, date of birth, and collection date.
  • Fill the request form and include the referring doctor's details and indication for testing.

Doctor's Notes

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

"Couples with a child affected by Hermansky-Pudlak syndrome have a 25% recurrence risk. Genetic testing enables accurate recurrence-risk counselling and reproductive planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeStandard laboratory requirement; consult lab for exact volume
ContainerEDTA vacutainer or FTA card or DNA vial
Collection MethodPeripheral blood draw or finger-prick FTA card / dried blood spot

Sample Stability

Whole blood in EDTA: 3 to 5 days at 2-8°C
FTA card: stable at room temperature for several weeks when kept dry
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Insufficient blood or DNA quantity
  • Use of incorrect anticoagulant
  • Improperly labelled sample or request form without clinical indication
  • Missing consent form where applicable

Understanding Your Results

The NGS genetic test report should be interpreted by a qualified clinical geneticist in the context of the patient's clinical presentation, family history, and other investigations.
📊

No pathogenic variant detected

HPS1-related Hermansky-Pudlak syndrome is unlikely, but other HPS subtypes or non-genetic causes should be considered depending on the clinical picture.

📊

Heterozygous pathogenic or likely pathogenic variant in HPS1

This may indicate carrier status. In a symptomatic individual, a second variant may be present in a region not covered by this test or there may be another genetic cause of the phenotype.

📊

Biallelic pathogenic or likely pathogenic variants in HPS1

This is consistent with a confirmed molecular diagnosis of Hermansky-Pudlak syndrome type 1.

📊

Variant of uncertain significance in HPS1

Further family segregation studies, biochemical or functional testing, and genetic counselling are recommended to clarify the clinical significance.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or the referring doctor if the test report shows a pathogenic, likely pathogenic, or uncertain variant. Genetic counselling is recommended for symptomatic individuals, carriers, and family members planning a pregnancy.

Limitations

  • ⚠This test is designed to detect variants in HPS1 and does not cover all genes associated with Hermansky-Pudlak syndrome subtypes.
  • ⚠Large deletions, duplications, and structural rearrangements involving HPS1 may not be detected unless additional testing is requested.
  • ⚠A negative HPS1 test does not exclude other HPS subtypes or other causes of oculocutaneous albinism and bleeding disorders.
  • ⚠Variants of uncertain significance may require family segregation studies or functional analysis before clinical interpretation is definitive.

Risks & Considerations

  • ●Minor pain or bruising at the venipuncture site
  • ●Dizziness during blood collection
  • ●Very low risk of infection or hematoma
  • ●No direct medical risk from FTA card blood spot collection

Interfering Factors

  • ●Contamination or mix-up of samples during collection
  • ●DNA degradation or insufficient sample quantity
  • ●Recent allogeneic bone marrow transplantation causing donor-derived DNA in blood
  • ●Complex structural variants or deep intronic variants not reliably detected by short-read NGS
  • ●Variants in non-coding regulatory regions not covered by this single-gene test

Compare With Similar Tests

TestHPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic Test
ComparisonHPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic Test

Frequently Asked Questions

What is the HPS1 gene?
The HPS1 gene is located on chromosome 10 and provides instructions for a protein involved in lysosome-related organelle biogenesis. Pathogenic variants in HPS1 cause Hermansky-Pudlak syndrome type 1.
What is Hermansky-Pudlak syndrome type 1?
Hermansky-Pudlak syndrome type 1 is a rare autosomal recessive disorder characterised by oculocutaneous albinism, bleeding tendency due to platelet dense-granule deficiency, and risk of pulmonary fibrosis.
What does the HPS1 NGS genetic test detect?
This test detects pathogenic variants in the HPS1 gene by next-generation sequencing, helping confirm the diagnosis of HPS type 1 and supporting carrier testing and genetic counselling.
What is the cost of the HPS1 gene NGS genetic test at DNA Labs India?
The test cost is Rs 20,000. This price includes free home sample collection in select cities across India.
Is fasting required before the HPS1 NGS genetic test?
No, fasting is not required for this genetic test.
What type of sample is needed for the HPS1 NGS genetic test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card.
How long does the HPS1 NGS genetic test report take?
The clinical report is generally available in 3 to 4 weeks after sample receipt.
Who should take the HPS1 gene NGS genetic test?
People with features of oculocutaneous albinism and bleeding disorder, unexplained pulmonary fibrosis, a family history of HPS, or those needing carrier risk assessment should consider this test after genetic counselling.
Can this test determine carrier status for Hermansky-Pudlak syndrome?
In an unaffected adult, detecting one heterozygous pathogenic HPS1 variant can indicate carrier status, especially when the familial variant is known. Genetic counselling is essential before and after testing.
How is the HPS1 NGS test different from a whole exome test?
The HPS1 NGS test focuses only on the HPS1 gene, making it more cost-effective when HPS type 1 is strongly suspected. Whole exome sequencing is broader and may identify variants in many other genes.
Does DNA Labs India provide raw data with the HPS1 genetic test report?
Yes, DNA Labs India shares raw FASTQ and VCF files along with the conclusive clinical report, ensuring transparency for the patient and treating clinician.
Does a negative HPS1 NGS result rule out Hermansky-Pudlak syndrome?
No. A negative HPS1 result does not exclude other HPS subtypes or other genetic causes. Further testing and clinical correlation may be needed.
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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