Skip to main content
DNA Labs India

PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test

PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic TestAdolescents and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test is to confirm the diagnosis of this rare genetic disorder, identify individuals who are carriers of the PSEN1 gene mutation, assess the risk for family members, and facilitate early intervention and management to improve patient outcomes.

Test Code
4808
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
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before sample collection.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Sample is collected via venipuncture for blood or using an FTA card for one drop of blood, following standard aseptic techniques.

Step 3

Report Delivery

Sample is processed and analyzed in the laboratory. Results are delivered within 3 to 4 weeks via online portal, email, or WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before testing.
2
During the Test:Blood sample collection is performed with minimal discomfort.
3
After the Test:Results are analyzed and reported within 3 to 4 weeks. Follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

The purpose of the PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test is to confirm the diagnosis of this rare genetic disorder, identify individuals who are carriers of the PSEN1 gene mutation, assess the risk for family members, and facilitate early intervention and management to improve patient outcomes.

How to Prepare

  • Provide detailed clinical history and family pedigree chart.
  • Ensure sample is collected in a sterile environment.
  • Label samples correctly with patient information.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is crucial for early diagnosis, carrier identification, and family planning in individuals with a history of acne inversa familial type 3."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Understanding Your Results

Results from the PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the PSEN1 gene. A positive result confirms the diagnosis and helps in identifying carriers, while a negative result may require further clinical evaluation.
📊

Positive for PSEN1 mutation

Confirms diagnosis of acne inversa familial type 3. Genetic counseling recommended for family members.

📊

Negative for PSEN1 mutation

No pathogenic variants detected. Clinical correlation and additional testing may be needed if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience recurrent skin abscesses, have a family history of acne inversa, or if genetic test results indicate a mutation. Early consultation can aid in management and family planning.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection

Frequently Asked Questions

What is Acne inversa familial type 3?
It is a rare genetic skin disorder causing painful abscesses and nodules in areas like armpits, groin, and under breasts, inherited in an autosomal dominant pattern.
How is Acne inversa familial type 3 inherited?
It is inherited in an autosomal dominant pattern, meaning a person only needs one copy of the faulty gene from one parent to develop the disorder.
What are the common symptoms?
Symptoms include recurrent painful abscesses, deep-seated cysts, scarring, draining sinuses, and secondary bacterial infections, often starting in adolescence.
How is the disorder diagnosed?
Diagnosis is based on characteristic symptoms, family history, and genetic testing to confirm mutations in the PSEN1 gene.
What is the PSEN1 gene?
The PSEN1 gene is the most commonly affected gene in acne inversa familial type 3, and mutations in this gene are detected using NGS technology.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing to accurately detect mutations in the PSEN1 gene from a blood or DNA sample.
What is the cost of the test?
The cost is INR 20,000, with free home sample collection available across India.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What do the results mean?
A positive result confirms the diagnosis and identifies carriers, while a negative result may require further clinical evaluation if symptoms persist.
Can carriers be identified with this test?
Yes, the test can identify individuals who are carriers of the PSEN1 gene mutation, even if they do not show symptoms.
How can I manage the condition after diagnosis?
Management includes medical treatments, lifestyle adjustments, and genetic counseling for family planning. Early diagnosis helps in timely intervention.
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.

Related Tests

Nx Gen Sequencing: Albinism Test

₹28,665

ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test

₹20,000

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

₹20,000

KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

₹20,000

LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

₹20,000

ENPP1 Gene Cole disease NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.