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ABCB4 Gene Cholestasis intrahepatic, of pregnancy, type 3 NGS Genetic Test

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ABCB4 Gene Cholestasis intrahepatic, of pregnancy, type 3 NGS Genetic Test

Short Name: ABCB4 ICP Type 3 Genetic Test

Also known as: ICP Type 3, MDR3 Deficiency, ABCB4-related Cholestasis, Intrahepatic Cholestasis of Pregnancy Type 3

ABCB4 Gene Cholestasis intrahepatic, of pregnancy, 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 TestFemaleReproductive Age (Adult)🏠 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 mutations in the ABCB4 gene that cause intrahepatic cholestasis of pregnancy type 3, enabling accurate diagnosis, risk assessment, and personalized management for affected pregnant women.

Test Code
1920
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 special preparation such as fasting is required. Provide clinical history and family pedigree information during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture technique.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bleeding. Resume normal activities unless otherwise advised.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss symptoms, family history, and test implications. No fasting required.
2
During the Test:Blood sample collection followed by NGS analysis in the laboratory.
3
After the Test:Review results with a genetic counselor or physician to plan management and treatment.

About This Test

Who Should Get This Test

To detect mutations in the ABCB4 gene that cause intrahepatic cholestasis of pregnancy type 3, enabling accurate diagnosis, risk assessment, and personalized management for affected pregnant women.

How to Prepare

  • Ensure patient identification is correct
  • Use aseptic technique during blood draw
  • Label the sample tube accurately with patient details
  • Store sample at ambient room temperature until dispatch

Doctor's Notes

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

"Early genetic testing for ABCB4 mutations can help manage intrahepatic cholestasis of pregnancy type 3, reducing risks for both mother and baby."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Ambient Temperature24 hours
Refrigerated (2-8°C)72 hours
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or container
  • Sample older than stability period

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic mutations in the ABCB4 gene. Genetic counseling is essential to understand implications.
📊

Pathogenic mutation detected

Confirms diagnosis of ABCB4-related ICP Type 3. Requires monitoring and management during pregnancy.

📊

No pathogenic mutation detected

Low likelihood of ABCB4-related ICP Type 3, but other causes of cholestasis should be evaluated.

📊

Variant of uncertain significance (VUS)

Further testing and family studies may be needed. Clinical correlation is advised.

⚠️ When to Consult a Doctor:

Consult a doctor immediately if you experience severe itching, jaundice, dark urine, or pale stools during pregnancy, especially with a family history of liver disorders.

Limitations

  • ⚠May not detect all rare or novel mutations in the ABCB4 gene
  • ⚠Results should be correlated with clinical symptoms and other diagnostic tests
  • ⚠Requires genetic counseling for proper interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection
  • ●Genetic testing may reveal unexpected findings requiring counseling

Interfering Factors

  • ●Contaminated or hemolyzed blood sample
  • ●Improper sample storage or transport
  • ●Recent blood transfusions may affect DNA quality

Compare With Similar Tests

TestABCB4 Gene Cholestasis intrahepatic, of pregnancy, type 3 NGS Genetic Test
ComparisonABCB4 Gene Cholestasis intrahepatic, of pregnancy, type 3 NGS Genetic Test

Frequently Asked Questions

What is ABCB4 Gene Cholestasis Intrahepatic of Pregnancy Type 3?
It is a genetic liver disorder caused by mutations in the ABCB4 gene, leading to impaired bile flow and bile acid buildup during pregnancy, resulting in symptoms like severe itching and jaundice.
What are the common symptoms of this condition?
Symptoms include severe itching on palms and soles, jaundice, dark urine, pale stools, nausea, vomiting, and loss of appetite during pregnancy.
How is ABCB4 Gene ICP Type 3 diagnosed?
Diagnosis involves blood tests for bile acid levels and genetic testing using NGS to identify mutations in the ABCB4 gene.
What is the cost of the NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available across India.
Is fasting required for this test?
No, fasting is not required for the blood sample collection.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should consider this genetic test?
Pregnant women with symptoms of cholestasis, those with family history of ICP, or individuals with elevated bile acid levels should consider this test.
What is the significance of detecting ABCB4 mutations?
Detection confirms the genetic cause of ICP Type 3, enabling targeted management and monitoring to reduce risks during pregnancy.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising. Genetic counseling is provided to address any concerns.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What should I do if I have symptoms during pregnancy?
Consult your doctor immediately for evaluation and possible genetic testing to rule out ICP Type 3.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy in detecting mutations in the ABCB4 gene, but results should be interpreted in clinical context.
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.

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