NR1H4 Gene Intrahepatic cholestasis of pregnancy, NR1H4 related NGS Genetic Test
Short Name: NR1H4 ICP Genetic Test
Also known as: NR1H4 Gene Test for ICP, FXR Gene Test, Cholestasis Genetic Test
NR1H4 Gene Intrahepatic cholestasis of pregnancy, NR1H4 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-generation sequencing) 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the NR1H4 Gene NGS Genetic Test is to identify mutations in the NR1H4 gene associated with intrahepatic cholestasis of pregnancy (ICP). This aids in diagnosing genetic causes of ICP, assessing risk, and guiding personalized management to improve maternal and fetal outcomes.
- Test Code
- 2604
- 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 (Next-generation sequencing)
Sample Collection
No special preparation is required. Provide clinical history and undergo genetic counseling if recommended.
Method: Blood draw or cheek swab
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist or a cheek swab collected. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the NR1H4 Gene NGS Genetic Test is to identify mutations in the NR1H4 gene associated with intrahepatic cholestasis of pregnancy (ICP). This aids in diagnosing genetic causes of ICP, assessing risk, and guiding personalized management to improve maternal and fetal outcomes.
How to Prepare
- Ensure sample is collected in a sterile environment
- Label the sample correctly with patient details
- Transport the sample as per lab guidelines to maintain stability
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test aids in early identification of NR1H4 mutations linked to intrahepatic cholestasis of pregnancy, enabling personalized management to reduce risks for mother and baby."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect labeling or documentation
Understanding Your Results
Pathogenic variant detected
Increased risk of developing ICP; recommend close monitoring and personalized management during pregnancy.
No pathogenic variant detected
Lower genetic risk for ICP, but clinical symptoms should still be evaluated. Other causes may be present.
Variant of uncertain significance
Further testing or family studies may be needed. Consult a geneticist for guidance.
Consult your doctor if you experience symptoms like persistent itching, dark urine, or abdominal pain during pregnancy, or if you have a family history of ICP. Early consultation allows for timely testing and management.
Limitations
- ⚠May not detect all genetic variants or mutations in NR1H4
- ⚠Results require interpretation by a geneticist or healthcare provider
- ⚠Does not replace clinical diagnosis based on symptoms and other tests
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection from sample collection
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper sample storage or handling
- ●Recent blood transfusion may affect DNA analysis
Compare With Similar Tests
| Test | NR1H4 Gene Intrahepatic cholestasis of pregnancy, NR1H4 related NGS Genetic Test | Bile Acid Test | Liver Function Test | ABCB4 Gene Test | Prenatal Genetic Screening Panel |
|---|---|---|---|---|---|
| Comparison | NR1H4 Gene Intrahepatic cholestasis of pregnancy, NR1H4 related NGS Genetic Test | Measures bile acid levels in blood; non-genetic, used for immediate diagnosis of ICP. | Assesses liver enzymes; helps in evaluating liver health but does not identify genetic causes. | Another genetic test for ICP-related mutations; may be recommended based on family history. | Broader genetic screening for multiple conditions; NR1H4 test is specific to ICP. |
Frequently Asked Questions
What is the NR1H4 Gene Test for Intrahepatic Cholestasis of Pregnancy?
Who should consider this genetic test?
How is the test performed?
What is the cost of the NR1H4 Gene Test in India?
Is home sample collection available?
How long does it take to get the results?
What do the test results mean?
Can this test diagnose ICP?
Are there any risks associated with the test?
What should I do if I test positive?
Is genetic counseling required before testing?
Does DNA Labs India provide raw data with the report?
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₹7,371Reference Laboratory Services
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