ATP8B1 Gene Cholestasis progressive intrahepatic type 1 NGS Genetic Test
Short Name: ATP8B1 Gene Cholestasis Type 1 Test
Also known as: Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1)
ATP8B1 Gene Cholestasis progressive intrahepatic type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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
To identify mutations in the ATP8B1 gene that cause progressive intrahepatic cholestasis type 1, aiding in diagnosis, management, and genetic counseling for affected families.
- Test Code
- 1918
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required.
Method: Venipuncture
Laboratory Analysis
Blood sample drawn by a trained phlebotomist using sterile equipment.
Report Delivery
Apply pressure to the puncture site to stop bleeding and avoid strenuous activity.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the ATP8B1 gene that cause progressive intrahepatic cholestasis type 1, aiding in diagnosis, management, and genetic counseling for affected families.
How to Prepare
- Ensure patient is calm and comfortable
- Use sterile collection equipment
- Label sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ATP8B1 mutations can guide management and improve outcomes for infants with cholestasis. Genetic counseling is recommended for families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrectly labeled or unlabeled sample
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of ATP8B1-related cholestasis; genetic counseling and management planning recommended.
No pathogenic variant detected
Genetic cause for cholestasis unlikely; consider other etiologies and further evaluation.
If symptoms of cholestasis are present, or if there is a family history of progressive intrahepatic cholestasis, consult a geneticist or pediatrician.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require clinical correlation
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Minor bruising at the puncture site
- ●Rare risk of infection or fainting
Interfering Factors
- ●Contaminated sample
- ●Insufficient DNA quality
- ●Technical errors in sequencing
Frequently Asked Questions
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