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AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic Test

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AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic Test

Short Name: AP3B1 HPS2 NGS Genetic Test

Also known as: HPS2 Genetic Test, AP3B1 Mutation Analysis

AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 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 The test report is delivered within 3 to 4 weeks (21-28 days) from the date of sample receipt. Delays may occur if additional bioinformatics analysis or variant confirmation by Sanger sequencing is required.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 confirm a diagnosis of Hermansky-Pudlak Syndrome Type 2 by detecting disease-causing mutations in the AP3B1 gene. It can also be used to identify carriers in families with a known AP3B1 mutation, for prenatal testing or preimplantation genetic diagnosis, and for risk stratification in at-risk relatives.

Test Code
3839
ICD Code
E70.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The test report is delivered within 3 to 4 weeks (21-28 days) from the date of sample receipt. Delays may occur if additional bioinformatics analysis or variant confirmation by Sanger sequencing is required.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Patients should bring their clinical history, prior lab reports, and identification. A genetic counseling session will be arranged before sample collection to draw a three-generation pedigree chart.

Method: Venipuncture / Finger-prick on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood from a vein in the arm using a sterile needle. For FTA card, a simple finger-prick is sufficient. The procedure is quick and associated with minimal discomfort.

Step 3

Report Delivery

No specific precautions are required after sample collection. Patients can resume daily activities normally. The sample is transported to the laboratory in a temperature-controlled container.

Timeline: The test report is delivered within 3 to 4 weeks (21-28 days) from the date of sample receipt. Delays may occur if additional bioinformatics analysis or variant confirmation by Sanger sequencing is required.

Patient Instructions

1
Before the Test:Before the test, the patient will be provided with pre-test genetic counseling. The clinician will document the patient's medical and family history, draw a pedigree, and explain the benefits and limitations of NGS testing. No fasting or medication changes are required.
2
During the Test:The test involves collection of a peripheral blood sample (2-5 mL in EDTA). Alternatively, a dried blood spot on FTA card can be provided. For extracted DNA samples, a minimum of 1 μg of high-quality DNA is required. The sample is sent to the DNA Labs India laboratory where genomic DNA is extracted and targeted NGS is performed.
3
After the Test:After sample collection, patients can return to their routine. The laboratory will process the sample and generate a comprehensive report within 3-4 weeks. The report will be shared through the patient portal, email, and WhatsApp. A post-test genetic counseling session will be scheduled to explain the results and implications.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a diagnosis of Hermansky-Pudlak Syndrome Type 2 by detecting disease-causing mutations in the AP3B1 gene. It can also be used to identify carriers in families with a known AP3B1 mutation, for prenatal testing or preimplantation genetic diagnosis, and for risk stratification in at-risk relatives.

How to Prepare

  • Ensure that the EDTA tube is filled to the marked level.
  • Gently invert the tube 8-10 times to mix blood with anticoagulant.
  • Label the FTA card with patient's name, date, and unique ID.
  • Do not refrigerate the FTA card after sample collection; keep it at room temperature in a dry location.
  • Coordinate with the lab for sample pickup if home collection is opted.

Doctor's Notes

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

"Genetic testing is essential for at-risk families, prenatal diagnosis and understanding inheritance patterns."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL blood in EDTA tube / ≥1 µg extracted DNA / 1 spot on FTA card
ContainerEDTA tube / Elution tube / FTA card
Collection MethodVenipuncture / Finger-prick on FTA card

Sample Stability

Whole blood (EDTA): 7 days at 2-8°C
Extracted DNA: 6 months at -20°C
Dried blood spot on FTA card: 2 years at room temperature (15-30°C)
Sample Rejection Criteria:
  • Clotted or visibly hemolyzed blood sample
  • Mislabeled sample or missing sample details
  • Insufficient volume for DNA extraction
  • FTA card with blood spots that are discolored or contaminated

Understanding Your Results

The interpretation of the AP3B1 NGS genetic test is based on the presence or absence of sequence variants classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines.
Positive (pathogenic variant): The presence of a known or expected disease-causing variant in AP3B1 confirms the diagnosis of HPS2 in a symptomatic individual.
Carrier: A single heterozygous pathogenic variant in AP3B1 indicates carrier status; carriers typically do not show clinical symptoms.
Negative: No pathogenic variant was identified. This does not rule out HPS2, as mutations may be present in other HPS-related genes or deep intronic regions.
Variant of Uncertain Significance (VUS): A variant with unknown clinical significance was found. It is recommended to test family members for segregation analysis and seek further clinical correlation.
⚠️ When to Consult a Doctor:

If the test result is positive, you should consult a clinical geneticist and a hematologist for comprehensive management. If the result is negative but symptoms persist, further evaluation for other HPS subtypes or platelet function disorders is recommended. For carrier or prenatal testing, please discuss with a genetic counselor.

Limitations

  • ⚠NGS does not reliably detect large genomic rearrangements, including complete exon deletions or duplications.
  • ⚠Deep intronic variants that may affect splicing are not analysed.
  • ⚠A negative result does not exclude a diagnosis of HPS caused by mutations in other HPS-related genes (e.g., HPS1, AP3D1).
  • ⚠Variant of uncertain significance (VUS) may require additional functional studies or family segregation analysis.
  • ⚠The test is not designed to detect mosaicism below 20% allele frequency.

Risks & Considerations

  • ●Bleeding or bruising at the venipuncture site
  • ●Infection at the puncture site (rare, as sterile techniques are used)
  • ●Mild dizziness or fainting during blood collection
  • ●Psychological stress from potential findings

Interfering Factors

  • ●Hemolyzed or clotted blood samples
  • ●Poor DNA quality due to degradation
  • ●Maternal cell contamination in fetal samples
  • ●Presence of a hematological malignancy causing clonal hematopoiesis
  • ●Recent allogeneic stem cell transplant (bone marrow chimerism)

Compare With Similar Tests

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ComparisonAP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic Test

Frequently Asked Questions

What is Hermansky-Pudlak Syndrome Type 2?
Hermansky-Pudlak Syndrome Type 2 (HPS2) is a rare inherited disorder caused by mutations in the AP3B1 gene. It affects lysosome-related organelles, leading to oculocutaneous albinism, bleeding abnormalities, pulmonary fibrosis, and sometimes neutropenia and infections.
What are the common symptoms of HPS2?
Common symptoms include easy bruising and bleeding, reduced visual acuity due to albinism, skin hypopigmentation, pulmonary fibrosis with breathing difficulties, and in some cases, recurrent infections due to neutropenia.
How is HPS2 diagnosed?
HPS2 is diagnosed through clinical evaluation, platelet function studies showing lack of delta-granules, electron microscopy findings, and confirmatory genetic testing identifying biallelic pathogenic mutations in the AP3B1 gene.
What is the role of the AP3B1 gene in HPS2?
The AP3B1 gene encodes the beta-3A subunit of the adaptor protein-3 (AP-3) complex, which is responsible for sorting cargo proteins to lysosomes and related organelles. Mutations disrupt this process, leading to the clinical features of HPS2.
Is fasting required before the AP3B1 NGS genetic test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection. There are no specific dietary restrictions.
What sample types are accepted for the AP3B1 gene test?
We accept peripheral whole blood in an EDTA tube, extracted DNA (minimum 1 µg), or one drop of blood on an FTA card. The FTA card option is convenient for home collection and postal delivery.
How long does it take to get the test results?
The turnaround time for the AP3B1 Gene HPS2 NGS Genetic Test is 3 to 4 weeks (21-28 days) from the date of sample receipt at the laboratory.
Does this test detect all types of mutations in AP3B1?
This NGS test detects single nucleotide variants, small insertions/deletions, and splice-site mutations in the coding regions and intron-exon boundaries. It does not detect large gene deletions, duplications, or deep intronic mutations.
Can the AP3B1 gene test be used for carrier screening?
Yes, this test can be used for carrier screening in individuals with a family history of HPS2. Identifying a single pathogenic variant confirms carrier status, which is important for family planning.
What is the cost of the AP3B1 HPS2 NGS genetic test at DNA Labs India?
The test costs INR 20000, which includes home sample collection, genetic counseling, and a detailed clinical report. There are no hidden charges.
How can I book this test?
You can book the test directly through the DNA Labs India website, call our customer support, or use the online booking portal. Home sample collection is available at no extra cost across 200+ cities in India.
What should I do if the result is positive?
A positive result should be discussed with a clinical geneticist. They will help you understand the implications, management options for bleeding, lung function monitoring, and counsel family members who may be at risk.
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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