HPS3 Gene Hermansky-Pudlak Syndrome Type 3 NGS Genetic Test
Short Name: HPS3 Gene NGS Test
Also known as: HPS3 Gene Mutation Test, Hermansky-Pudlak Syndrome Type 3 NGS Panel, HPS3 Sequencing
HPS3 Gene Hermansky-Pudlak Syndrome Type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Whole Blood / Extracted DNA / FTA Card Blood Spot samples. Results in 3 to 4 weeks from sample receipt. Reports are uploaded to the online portal and also sent via email or WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify disease-causing mutations in the HPS3 gene to establish a molecular diagnosis of Hermansky-Pudlak Syndrome type 3. It is also useful for carrier testing in families, confirming the clinical diagnosis in individuals with suggestive features, and guiding personalized medical management.
- Test Code
- 3840
- Price
- ₹20,000
- Sample Type
- Whole Blood / Extracted DNA / FTA Card Blood Spot
- Result Time
- 3 to 4 weeks from sample receipt. Reports are uploaded to the online portal and also sent via email or WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A pre-test genetic counselling session is recommended to draw a pedigree chart and discuss the implications of test results. Clinical history of the patient should be provided.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A blood sample is collected by a trained phlebotomist using sterile techniques. If FTA card sample is provided, the blood spot is collected according to instructions.
Report Delivery
No post-test restrictions are needed. Patients can resume normal activities immediately after sample collection.
Timeline: 3 to 4 weeks from sample receipt. Reports are uploaded to the online portal and also sent via email or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing mutations in the HPS3 gene to establish a molecular diagnosis of Hermansky-Pudlak Syndrome type 3. It is also useful for carrier testing in families, confirming the clinical diagnosis in individuals with suggestive features, and guiding personalized medical management.
How to Prepare
- Use EDTA anticoagulant tube for whole blood
- If FTA card, apply the blood drop and allow it to dry completely
- Do not freeze whole blood samples
- Specimens should be transported in sealed bags at room temperature
- Accompany the sample with the requisition form containing clinical history
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for HPS3 is essential for families with a history of bleeding disorders, albinism, or unexplained pulmonary fibrosis. Early diagnosis enables surveillance and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Incorrectly labelled samples
- Samples in non-EDTA anticoagulant
- Insufficient DNA quantity
Understanding Your Results
Pathogenic variant detected
Confirms a molecular diagnosis of Hermansky-Pudlak syndrome type 3. Provide clinical management and family cascade testing.
Likely pathogenic variant detected
Considered disease-causing with high confidence. Clinical correlation and family segregation may be recommended.
Variants of uncertain significance (VUS)
Not sufficient to confirm diagnosis. Additional testing, family studies, or functional analysis may be required.
No pathogenic variant detected
Reduces the likelihood of HPS3 but does not exclude other genetic causes. Reconsider clinical diagnosis and other genes.
You should consult a geneticist or your referring physician if you have a family history of Hermansky-Pudlak syndrome type 3, unexplained albinism, bleeding tendencies, or if you are planning a family and need carrier screening.
Limitations
- ⚠This test only analyzes the HPS3 gene; mutations in other HPS genes will not be detected
- ⚠Large deletions/duplications or deep intronic variants may not be identified by standard NGS unless specified
- ⚠Variants of uncertain significance (VUS) may be reported and require additional interpretation
- ⚠Not a substitute for full clinical evaluation and genetic counselling
Risks & Considerations
- ●Mild pain or bruising at the blood draw site
- ●Dizziness or fainting during venipuncture
- ●Rare infection at the puncture site
Interfering Factors
- ●Recent bone marrow transplant may lead to donor DNA profile
- ●Sample contamination leading to mixed DNA
- ●Incorrect sample labelling
- ●Low DNA quality or inadequate sample quantity
Frequently Asked Questions
What is Hermansky-Pudlak Syndrome type 3?
What does the HPS3 NGS genetic test measure?
What sample is required for this test?
Do I need to fast before this test?
How long does it take to get results?
What is the cost of the HPS3 gene test at DNA Labs India?
Will I receive raw data files?
Can this test be used for carrier testing?
Are there any risks in taking this test?
Does this test cover other types of Hermansky-Pudlak syndrome?
What does a negative result mean?
How should I book this test?
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₹20,000Reference 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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