UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic Test
Short Name: UGT1A1 FTN-HBL Genetic Test
Also known as: Familial Transient Neonatal Hyperbilirubinemia, UGT1A1 Mutation Test, FTN-HBL Genetic Test
UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal 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 diagnose familial transient neonatal hyperbilirubinemia caused by UGT1A1 gene mutations, confirm genetic etiology, guide clinical management, and provide information for genetic counseling and family planning.
- Test Code
- 5422
- 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
Obtain detailed clinical history of the patient, including symptoms and family history. Conduct a genetic counseling session to draw a pedigree chart of family members affected with hyperbilirubinemia.
Method: Venipuncture or blood spot on FTA card
Laboratory Analysis
Collect blood sample via venipuncture or apply one drop of blood on an FTA card. Ensure proper labeling and handling to maintain sample integrity.
Report Delivery
Transport the sample to the laboratory under ambient room temperature conditions. Process the sample for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose familial transient neonatal hyperbilirubinemia caused by UGT1A1 gene mutations, confirm genetic etiology, guide clinical management, and provide information for genetic counseling and family planning.
How to Prepare
- Provide clinical history of the patient
- Complete genetic counseling session and pedigree chart
- Use sterile equipment for blood collection
- Label samples accurately with patient details
- Store samples at room temperature if using FTA card
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for UGT1A1 mutations can aid in managing neonatal jaundice, guide treatment decisions, and provide valuable information for family planning and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Samples without accompanying clinical history
Understanding Your Results
No pathogenic variants detected
Normal result; UGT1A1 gene mutations not found. Consider other causes of hyperbilirubinemia.
Pathogenic variant detected
Confirms genetic cause of hyperbilirubinemia. Genetic counseling recommended for family planning.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed. Clinical correlation advised.
Multiple variants detected
May indicate complex genetic factors; specialist consultation recommended.
Consult a doctor if your newborn shows symptoms of jaundice, if bilirubin levels are elevated, or if you have a family history of hyperbilirubinemia. Genetic counseling is advised after receiving test results.
Limitations
- ⚠May not detect all possible UGT1A1 gene mutations
- ⚠Results require clinical correlation and genetic counseling
- ⚠Turnaround time of 3-4 weeks may delay diagnosis
- ⚠Does not rule out other causes of hyperbilirubinemia
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Very low risk of infection
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Poor sample quality (e.g., hemolyzed blood)
- ●Contamination during sample collection or processing
- ●Insufficient DNA quantity
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic Test | Serum Bilirubin Test | Liver Function Test | Gilbert Syndrome Genetic Test | Comprehensive Jaundice Panel |
|---|---|---|---|---|---|
| Comparison | UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic Test |
Frequently Asked Questions
What is the UGT1A1 gene hyperbilirubinemia test?
Who should get this test?
How is the test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
What do the results mean?
Are there any risks associated with the test?
Can this test be done at home?
What should I do after receiving the results?
Is the test covered by insurance?
Why is genetic testing important for hyperbilirubinemia?
Related Tests
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.