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ABCB6 Gene Dyschromatosis universalis hereditaria type 3 NGS Genetic Test

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ABCB6 Gene Dyschromatosis universalis hereditaria type 3 NGS Genetic Test

Short Name: ABCB6 DUH3 NGS Test

Also known as: Dyschromatosis universalis hereditaria type 3, DUH3, ABCB6 gene dyschromatosis test

ABCB6 Gene Dyschromatosis universalis hereditaria type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 Weeks. 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 the ABCB6 Gene DUH3 NGS Genetic Test is to detect mutations in the ABCB6 gene that cause Dyschromatosis universalis hereditaria type 3. This test aids in confirming the diagnosis, understanding the genetic basis of the disorder, and facilitating genetic counseling for affected individuals and their families.

Test Code
4898
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide detailed clinical history and family pedigree for accurate analysis.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm by a trained phlebotomist. The process takes about 10-15 minutes.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. No fasting or special preparation is required.
2
During the Test:Blood sample collection is a quick procedure involving venipuncture, typically completed in 10-15 minutes.
3
After the Test:Resume normal activities. Results will be available in 3-4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of the ABCB6 Gene DUH3 NGS Genetic Test is to detect mutations in the ABCB6 gene that cause Dyschromatosis universalis hereditaria type 3. This test aids in confirming the diagnosis, understanding the genetic basis of the disorder, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • No fasting required for this test.
  • Wear loose clothing for easy access to the arm.
  • Inform the healthcare provider about any medications or supplements being taken.

Doctor's Notes

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

"Early genetic testing for Dyschromatosis universalis hereditaria type 3 can aid in timely management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours.
For longer storage, refrigerate at 2-8°C for up to 72 hours.
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrectly labeled or contaminated samples

Understanding Your Results

Results of the ABCB6 Gene DUH3 NGS Genetic Test indicate the presence or absence of mutations in the ABCB6 gene associated with Dyschromatosis universalis hereditaria type 3.
Positive result: Pathogenic mutation detected, confirming diagnosis of DUH3. Genetic counseling is recommended.
Negative result: No pathogenic mutations found. Clinical correlation and further evaluation may be needed.
Variant of uncertain significance: Further testing, family studies, or functional analysis may be required for clarification.
⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist if you have symptoms of skin pigmentation disorders or a family history of DUH3. After receiving test results, seek genetic counseling to understand implications for health and family planning.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications.
  • ⚠Results require interpretation by a qualified geneticist.
  • ⚠Does not rule out other genetic conditions with similar symptoms.

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising, soreness, or infection at the puncture site.
  • ●Emotional or psychological impact of genetic test results, requiring genetic counseling.

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during sample processing
  • ●Technical errors in sequencing

Compare With Similar Tests

TestABCB6 Gene Dyschromatosis universalis hereditaria type 3 NGS Genetic TestSkin BiopsyWhole Exome Sequencing
ComparisonABCB6 Gene Dyschromatosis universalis hereditaria type 3 NGS Genetic Test

Frequently Asked Questions

What is Dyschromatosis universalis hereditaria type 3 (DUH3)?
DUH3 is a rare genetic skin disorder characterized by hyperpigmented and hypopigmented macules, caused by mutations in the ABCB6 gene and inherited in an autosomal dominant manner.
What are the symptoms of DUH3?
Symptoms include dark spots (hyperpigmented macules), light spots (hypopigmented macules), mottled pigmentation, and onset typically in infancy or early childhood.
How is DUH3 diagnosed?
Diagnosis is confirmed through genetic testing, specifically Next-Generation Sequencing (NGS) of the ABCB6 gene to identify pathogenic mutations.
What is the cost of the ABCB6 Gene DUH3 NGS Genetic Test?
The test costs INR 20,000 in India, which includes the test procedure and genetic counseling.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings across many cities in India, including Mumbai, Delhi, Bangalore, and others.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks and can be accessed via online portal, email, or WhatsApp.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the ABCB6 gene, confirming a diagnosis of DUH3. Genetic counseling is recommended to discuss implications.
Is genetic counseling included in the test cost?
Yes, the test cost of INR 20,000 includes a genetic counseling session to help interpret results and provide guidance.
Can this test be performed on children?
Yes, the test can be performed on individuals of all ages, including infants and children, as DUH3 often presents in early childhood.
What should I do if I have a family history of DUH3?
Consider genetic testing and counseling to assess risk, confirm diagnosis, and plan for management or family planning.
Are there any risks associated with the genetic test?
The test involves a blood draw with minimal risks like bruising. Genetic results may have emotional impacts, so counseling is provided.
How accurate is the NGS Genetic Test for DUH3?
NGS is a highly accurate method for detecting mutations in the ABCB6 gene, but interpretation by a qualified geneticist is essential for clinical correlation.
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

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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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