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ABCB4 Gene Cholestasis progressive intrahepatic type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ABCB4 Gene Cholestasis progressive intrahepatic type 3 NGS Genetic Test

Short Name: ABCB4 Gene PIC Test

Also known as: PIC Type 3 Genetic Test, ABCB4 Mutation Analysis

ABCB4 Gene Cholestasis progressive intrahepatic type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood samples. Results in 3-4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the ABCB4 gene responsible for progressive intrahepatic cholestasis type 3, enabling accurate diagnosis and personalized treatment planning.

Test Code
1925
Price
₹20,000
Sample Type
Blood
Result Time
3-4 weeks from sample receipt
Fasting Required
No
Method
NGS
Step 1

Sample Collection

Provide complete clinical history and family pedigree. Attend genetic counseling session.

Step 2

Laboratory Analysis

A blood sample is collected via standard venipuncture procedure.

Step 3

Report Delivery

Apply pressure to the puncture site. Monitor for any signs of infection or bleeding.

Timeline: 3-4 weeks from sample receipt

Patient Instructions

1
Before the Test:Consult with a healthcare provider and undergo genetic counseling.
2
During the Test:DNA extraction and next-generation sequencing analysis performed on the sample.
3
After the Test:Results reviewed by a geneticist and report generated.

About This Test

Who Should Get This Test

To identify mutations in the ABCB4 gene responsible for progressive intrahepatic cholestasis type 3, enabling accurate diagnosis and personalized treatment planning.

How to Prepare

  • Ensure patient identification
  • Use aseptic technique
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for ABCB4 mutations is crucial for early diagnosis and management of progressive intrahepatic cholestasis type 3."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood

Sample Stability

Blood samples stable at room temperature for 24 hours
Long-term storage at -20°C
Sample Rejection Criteria:
  • Sample hemolyzed
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results from the ABCB4 gene test indicate the presence or absence of genetic mutations associated with progressive intrahepatic cholestasis type 3.
📊

Confirms diagnosis of ABCB4-related cholestasis

Recommendation: Consult a hepatologist and genetic counselor

📊

Unlikely to have ABCB4-related cholestasis

Recommendation: Consider other diagnostic tests

⚠️ When to Consult a Doctor:

If you experience symptoms of cholestasis, have a family history of liver disease, or receive abnormal genetic test results.

Limitations

  • May not detect all types of mutations
  • Requires specialized interpretation
  • False negatives possible in some cases

Risks & Considerations

  • Minor bruising at blood draw site
  • Rare risk of infection

Interfering Factors

  • DNA degradation
  • Sample contamination
  • Hemolysis

Compare With Similar Tests

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Frequently Asked Questions

What is ABCB4 gene cholestasis?
It is a genetic liver disorder caused by mutations in the ABCB4 gene, leading to impaired bile flow.
What are the symptoms of progressive intrahepatic cholestasis type 3?
Symptoms include jaundice, itching, enlarged liver and spleen, abdominal pain, low platelet count, and delayed growth.
How is the ABCB4 gene test performed?
It uses NGS technology to analyze DNA from a blood sample for mutations in the ABCB4 gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home collection is available across India for online bookings.
How long does it take to get results?
Reports are delivered in 3-4 weeks.
Do I need to fast before the test?
No, fasting is not required.
What should I do before the test?
Provide clinical history and attend a genetic counseling session.
Is the test covered by insurance?
Coverage varies; check with your insurance provider.
Can the test be done for children?
Yes, it can be performed on individuals of all ages with suspected symptoms.
What if the test result is positive?
Consult a genetic specialist for further management and counseling.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting known mutations, but interpretation requires expertise.
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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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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