ATP8B1 Gene Cholestasis, intrahepatic, of pregnancy, type 1 NGS Genetic Test
Short Name: ATP8B1 Gene ICP Type 1 NGS Test
Also known as: Intrahepatic Cholestasis of Pregnancy Type 1, ICP Type 1, PFIC1 Related Cholestasis
ATP8B1 Gene Cholestasis, intrahepatic, of pregnancy, type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 Ramarao Paidisetty
Consultant Biochemist · Reg: 21504
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm the genetic basis of intrahepatic cholestasis of pregnancy type 1 by detecting mutations in the ATP8B1 gene, aiding in diagnosis, risk assessment, and personalized management during pregnancy.
- Test Code
- 1924
- 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 Technology
Sample Collection
Genetic counseling is recommended to discuss test implications and draw a family pedigree chart. No special preparation is required, but providing clinical history is advised.
Method: Blood Draw
Laboratory Analysis
A blood sample will be collected via venipuncture. Alternatively, one drop of blood on an FTA card or extracted DNA can be used.
Report Delivery
Apply pressure to the collection site to prevent bruising. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm the genetic basis of intrahepatic cholestasis of pregnancy type 1 by detecting mutations in the ATP8B1 gene, aiding in diagnosis, risk assessment, and personalized management during pregnancy.
How to Prepare
- Ensure proper identification and labeling of samples
- Use sterile equipment for blood draw
- Handle samples carefully to avoid hemolysis
Doctor's Notes
Reviewed by Dr Ramarao Paidisetty — MBBS, MD (Biochemistry) · Reg. No. 21504
"Early genetic diagnosis of intrahepatic cholestasis of pregnancy is vital for managing maternal and fetal health, allowing for timely interventions to reduce complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Unlabeled or mislabeled samples
Understanding Your Results
No pathogenic mutations detected
Normal result; low genetic risk for ATP8B1-related cholestasis. Clinical correlation is advised.
Pathogenic mutation detected
Confirms genetic basis for intrahepatic cholestasis. Consult a geneticist or Ob-Gyn for management.
Consult a doctor immediately if you experience symptoms like severe itching, jaundice, or dark urine during pregnancy, or if genetic test results indicate mutations.
Limitations
- ⚠May not detect all genetic variants due to sequencing limitations
- ⚠Results should be correlated with clinical symptoms and other tests
- ⚠Not a standalone diagnostic tool without clinical evaluation
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Rare risk of infection from needle stick
- ●Emotional impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Recent blood transfusions may affect results
- ●Improper sample collection or storage
Compare With Similar Tests
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| Comparison | ATP8B1 Gene Cholestasis, intrahepatic, of pregnancy, type 1 NGS Genetic Test |
Frequently Asked Questions
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