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DNA Labs India

PRF1 Gene Aplastic anemia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PRF1 Gene Aplastic anemia NGS Genetic Test

Short Name: PRF1 NGS Test

Also known as: PRF1 Mutation Test, Perforin Gene Test, Aplastic Anemia Genetic Test

PRF1 Gene Aplastic anemia 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 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 detect pathogenic mutations in the PRF1 gene associated with aplastic anemia and related immune disorders, aiding in diagnosis, risk assessment, and personalized treatment planning.

Test Code
4629
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree chart as advised during genetic counseling.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A blood sample will be drawn via venipuncture or a finger-prick for FTA card collection. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss indications, risks, and implications. Provide informed consent.
2
During the Test:Sample collection as per instructions. No active patient involvement during NGS analysis.
3
After the Test:Report delivery in 3-4 weeks. Follow-up with healthcare provider for result interpretation and management.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the PRF1 gene associated with aplastic anemia and related immune disorders, aiding in diagnosis, risk assessment, and personalized treatment planning.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Use sterile collection tubes or FTA cards as provided
  • Transport samples at ambient temperature unless specified otherwise

Doctor's Notes

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

"Genetic testing for PRF1 mutations can aid in early diagnosis, risk assessment, and personalized management of aplastic anemia, especially in familial cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood in EDTA tube: stable for 7 days at 2-8°C
FTA card: stable at room temperature for years if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted samples
  • Improperly labeled or contaminated specimens

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PRF1 gene. Positive results suggest a genetic predisposition to aplastic anemia, while negative results do not completely exclude genetic causes.
Pathogenic variant detected: Confirms genetic etiology; recommend family screening and clinical management
Likely pathogenic variant: Strong evidence for disease association; further evaluation advised
Variant of uncertain significance (VUS): Insufficient evidence; monitor with clinical follow-up
No pathogenic variant: Genetic cause unlikely; consider other diagnostic avenues
⚠️ When to Consult a Doctor:

Consult a hematologist or genetic specialist if you have symptoms of aplastic anemia, a positive test result, or a family history of the condition. Genetic counseling is recommended for all cases.

Limitations

  • ⚠This test may not detect all genetic variants associated with aplastic anemia, including deep intronic or regulatory mutations
  • ⚠Results require clinical correlation and genetic counseling for interpretation
  • ⚠Does not rule out other causes of aplastic anemia, such as acquired or environmental factors

Risks & Considerations

  • ●Minimal risk from blood draw: slight pain, bruising, or infection at puncture site
  • ●Psychological impact of genetic results; counseling support available

Interfering Factors

  • ●Hemolyzed or degraded DNA samples may yield inaccurate results
  • ●Recent blood transfusions could affect DNA analysis
  • ●Contamination during sample collection or processing

Frequently Asked Questions

What is the PRF1 Gene Aplastic Anemia NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the PRF1 gene for mutations associated with aplastic anemia and immune disorders.
Who should consider this test?
Individuals with a family history of aplastic anemia, unexplained blood cell deficiencies, or symptoms like fatigue and recurrent infections.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to detect variants in the PRF1 gene.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic PRF1 mutations are present, which may confirm a genetic predisposition to aplastic anemia.
Is the test covered by insurance?
Some insurance plans may cover genetic testing; check with your provider for specific coverage details.
Can I get home sample collection?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What is the significance of PRF1 gene mutations?
PRF1 mutations affect perforin production, impairing immune function and increasing risk for aplastic anemia and related disorders.
Do I need genetic counseling?
Yes, genetic counseling is recommended before and after testing to understand implications, risks, and management options.
What files are provided with the report?
DNA Labs India provides raw data files (FASTQ, VCF) along with the clinical test report for transparency.
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.

LIMS Integration

Your Data Privacy

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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