ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic Test
Short Name: PFIC2 NGS Genetic Test
Also known as: PFIC2, Bile Salt Export Pump Deficiency Disease
ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Results are typically available within 3 to 4 weeks after sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the ABCB11 gene that cause Progressive Intrahepatic Cholestasis Type 2 (PFIC2), enabling accurate diagnosis, risk assessment, and informed decision-making for treatment and genetic counseling.
- Test Code
- 1919
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are typically available within 3 to 4 weeks after sample collection.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling is recommended to understand the implications of testing. Provide detailed clinical and family history.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected via venipuncture from a vein in the arm.
Report Delivery
The sample is labeled and sent to the laboratory for NGS analysis. Results are interpreted by geneticists.
Timeline: Results are typically available within 3 to 4 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the ABCB11 gene that cause Progressive Intrahepatic Cholestasis Type 2 (PFIC2), enabling accurate diagnosis, risk assessment, and informed decision-making for treatment and genetic counseling.
How to Prepare
- Ensure proper patient identification and sample labeling
- Avoid hemolysis by handling the sample gently
- Store the sample at ambient room temperature before shipping
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for PFIC2 is crucial for accurate diagnosis, family planning, and early intervention to prevent liver damage."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic sample
- Insufficient sample volume
- Improperly labeled or contaminated sample
Understanding Your Results
Pathogenic mutation detected in the ABCB11 gene, confirming diagnosis of PFIC2. Genetic counseling recommended.
Result type: Positive
No pathogenic mutation detected; PFIC2 unlikely but clinical correlation needed if symptoms persist.
Result type: Negative
Mutation detected but clinical significance unknown; further testing or family studies may be required.
Result type: Variant of Uncertain Significance
Technical issues or insufficient DNA; retesting may be suggested.
Result type: Inconclusive
Consult a doctor if you or your child experience symptoms like jaundice, itching, pale stools, or have a family history of liver disease. Genetic counseling is advised before and after testing.
Limitations
- ⚠Detects only mutations in the ABCB11 gene; may not identify other genetic causes of cholestasis
- ⚠Cannot determine disease severity or progression
- ⚠Results require clinical correlation for diagnosis
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results, requiring counseling support
Interfering Factors
- ●Sample contamination
- ●Degraded DNA from improper storage
- ●Recent blood transfusion affecting DNA analysis
Compare With Similar Tests
| Test | ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic Test | ATP8B1 Gene Test for PFIC1 | Liver Function Test Panel | Bile Acid Test |
|---|---|---|---|---|
| Comparison | ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic Test |
Frequently Asked Questions
What is ABCB11 Gene Cholestasis Progressive Intrahepatic Type 2?
What are the common symptoms of PFIC2?
How is PFIC2 diagnosed?
What does the ABCB11 Gene NGS Genetic Test involve?
Is fasting required for this test?
How long does it take to get results?
What is the cost of the test?
Is home sample collection available?
What does a positive test result mean?
What are the treatment options for PFIC2?
Can this test be used for prenatal diagnosis?
Is genetic counseling provided with the test?
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