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UGT1A1 Gene Crigler-Najjar syndrome, type 1 NGS Genetic Test

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UGT1A1 Gene Crigler-Najjar syndrome, type 1 NGS Genetic Test

Short Name: Crigler-Najjar Type 1 NGS Test

Also known as: UGT1A1 Gene Analysis, Crigler-Najjar Syndrome Genetic Screening

UGT1A1 Gene Crigler-Najjar syndrome, type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the UGT1A1 gene that cause Crigler-Najjar Syndrome Type 1, aiding in diagnosis, management, and genetic counseling.

Test Code
2574
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor or physician to understand the test implications.
2
During the Test:A blood sample is drawn and sent for NGS analysis.
3
After the Test:Results are available in 3-4 weeks. Follow up with your doctor for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the UGT1A1 gene that cause Crigler-Najjar Syndrome Type 1, aiding in diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for Crigler-Najjar Syndrome is crucial for early diagnosis and management, especially in families with a history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Sample Volume3-5 mL blood or as required
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood: 24-48 hours at room temperature
Extracted DNA: stable for longer periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated sample
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the UGT1A1 gene associated with Crigler-Najjar Syndrome Type 1.
Positive result: Pathogenic variant detected, confirm diagnosis
Negative result: No pathogenic variants, but clinical correlation needed
Variant of uncertain significance: Further testing may be required
⚠️ When to Consult a Doctor:

If symptoms persist or if genetic testing is recommended based on family history.

Limitations

  • May not detect all types of mutations
  • Results require genetic counseling
  • Not a substitute for clinical diagnosis

Risks & Considerations

  • Minimal risk from blood draw: bruising, infection
  • Psychological impact of genetic results

Interfering Factors

  • Contaminated DNA sample
  • Degraded sample quality
  • Technical errors in sequencing

Compare With Similar Tests

TestUGT1A1 Gene Crigler-Najjar syndrome, type 1 NGS Genetic TestSerum Bilirubin TestLiver Function Tests
ComparisonUGT1A1 Gene Crigler-Najjar syndrome, type 1 NGS Genetic Test

Frequently Asked Questions

What is Crigler-Najjar Syndrome Type 1?
It is a rare genetic disorder caused by mutations in the UGT1A1 gene, leading to severe jaundice due to the liver's inability to process bilirubin.
How is the UGT1A1 gene test performed?
The test uses next-generation sequencing (NGS) to analyze the UGT1A1 gene from a blood or DNA sample.
What are the symptoms of Crigler-Najjar Syndrome?
Symptoms include jaundice, fatigue, weakness, and abdominal pain, often appearing from birth.
Who should get this genetic test?
Individuals with persistent jaundice, elevated bilirubin levels, or a family history of the syndrome.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, with home collection available.
Is home sample collection available?
Yes, free home sample collection is offered across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What does a positive result mean?
A positive result indicates pathogenic mutations in the UGT1A1 gene, confirming Crigler-Najjar Syndrome Type 1.
What are the treatment options for Crigler-Najjar Syndrome?
Treatment may include phototherapy, liver transplantation, and ongoing monitoring.
Can this test be used for prenatal diagnosis?
Yes, if there is a family history, prenatal testing may be considered with genetic counseling.
Is genetic counseling provided with the test?
Yes, genetic counseling is recommended to interpret results and discuss implications.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be correlated with clinical findings.
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.

LIMS Integration

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.

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