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UGT1A1 Gene Crigler-Najjar syndrome, type 2 NGS Genetic Test

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UGT1A1 Gene Crigler-Najjar syndrome, type 2 NGS Genetic Test

Short Name: UGT1A1 Crigler-Najjar Type 2 NGS Test

Also known as: UGT1A1 Gene Test for Crigler-Najjar Syndrome, Crigler-Najjar Type 2 Genetic Test, NGS Test for UGT1A1 Mutation

UGT1A1 Gene Crigler-Najjar syndrome, type 2 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 from sample collection.. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the UGT1A1 gene for the diagnosis of Crigler-Najjar Syndrome Type 2, aiding in clinical management, treatment decisions, and genetic counseling.

Test Code
2579
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample collection.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Inform the lab about any medications or supplements.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 weeks from sample collection.

Patient Instructions

1
Before the Test:Consult with a genetic counselor or healthcare provider to understand the test and its implications.
2
During the Test:The test involves a simple blood draw or FTA card collection. The process is quick and minimally invasive.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your doctor for interpretation and next steps.

About This Test

Who Should Get This Test

To identify mutations in the UGT1A1 gene for the diagnosis of Crigler-Najjar Syndrome Type 2, aiding in clinical management, treatment decisions, and genetic counseling.

How to Prepare

  • Fast if required, but not mandatory for this test
  • Bring identification and doctor's prescription
  • Wear loose clothing for easy blood draw

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for Crigler-Najjar Syndrome Type 2 is crucial for early intervention and family planning. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml of blood or as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood sample: stable for 48 hours at room temperature
FTA card: stable for months if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the UGT1A1 gene. A positive result confirms Crigler-Najjar Syndrome Type 2, while a negative result may require further testing.
📊

No mutation detected

No pathogenic variants in UGT1A1 gene. Clinical correlation recommended.

📊

Mutation detected

Pathogenic variant(s) identified, consistent with Crigler-Najjar Syndrome Type 2. Genetic counseling advised.

⚠️ When to Consult a Doctor:

If you experience symptoms of jaundice, or if you have a family history of Crigler-Najjar Syndrome, consult a healthcare provider for testing and management.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Results require clinical correlation
  • ⚠Not suitable for prenatal diagnosis without confirmation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

TestUGT1A1 Gene Crigler-Najjar syndrome, type 2 NGS Genetic TestBilirubin TestLiver Function TestUGT1A1 Gene SequencingGenetic Counseling
ComparisonUGT1A1 Gene Crigler-Najjar syndrome, type 2 NGS Genetic Test

Frequently Asked Questions

What is Crigler-Najjar Syndrome Type 2?
Crigler-Najjar Syndrome Type 2 is a rare genetic disorder caused by mutations in the UGT1A1 gene, leading to reduced enzyme activity and unconjugated hyperbilirubinemia, with symptoms like jaundice.
What is the UGT1A1 gene?
The UGT1A1 gene encodes the enzyme UDP-glucuronosyltransferase, which is essential for bilirubin metabolism. Mutations in this gene cause Crigler-Najjar Syndrome.
How is the NGS genetic test performed?
The test uses next-generation sequencing to analyze the UGT1A1 gene from a blood or DNA sample, identifying mutations associated with Crigler-Najjar Syndrome Type 2.
What is the cost of the UGT1A1 gene test in India?
The cost is INR 20000 at DNA Labs India, which includes sample collection, analysis, and genetic counseling.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from sample collection.
What do the test results mean?
A positive result indicates mutations in the UGT1A1 gene, confirming Crigler-Najjar Syndrome Type 2. A negative result means no mutations were detected, but clinical correlation is advised.
Is the test covered by insurance?
Coverage depends on your insurance plan. It is not typically covered under government schemes like PMJAY or CGHS, but check with your provider.
Who should consider getting this genetic test?
Individuals with a family history of Crigler-Najjar Syndrome, persistent jaundice, or symptoms suggestive of the disorder should consider testing.
What are the symptoms of Crigler-Najjar Syndrome?
Symptoms include yellowing of the skin and eyes (jaundice), abdominal pain, dark urine, and fatigue, often appearing in childhood or adolescence.
How is Crigler-Najjar Syndrome Type 2 treated?
Treatment may include phenobarbital to increase enzyme activity, phototherapy, and monitoring bilirubin levels. Genetic counseling is also recommended.
Can this test be used for carrier testing?
Yes, the test can identify carriers of UGT1A1 gene mutations, which is useful for family planning and genetic counseling.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

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