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JAG1 Gene Alagille syndrome type 1 NGS Genetic Test

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JAG1 Gene Alagille syndrome type 1 NGS Genetic Test

Short Name: JAG1 Alagille Syndrome NGS Test

Also known as: JAG1 Mutation Analysis, Alagille Syndrome Genetic Test, JAG1 Gene Sequencing

JAG1 Gene Alagille syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

PediatricsPediatric🏠 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 confirm the diagnosis of Alagille syndrome type 1 by detecting pathogenic mutations in the JAG1 gene using NGS technology.

Test Code
5648
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 (Next-Generation Sequencing)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree chart as advised.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or a drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss implications and draw a family pedigree chart.
2
During the Test:Sample collection takes a few minutes. No pain beyond a needle prick for blood draw.
3
After the Test:Resume normal activities. Await results and follow up with genetic counselor.

About This Test

Who Should Get This Test

To confirm the diagnosis of Alagille syndrome type 1 by detecting pathogenic mutations in the JAG1 gene using NGS technology.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label sample correctly with patient details

Doctor's Notes

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

"This NGS test is essential for early diagnosis of Alagille syndrome in children, enabling timely management of liver and cardiac complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the JAG1 gene. Positive results confirm Alagille syndrome type 1, while negative results may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of Alagille syndrome type 1. Genetic counseling and multidisciplinary management recommended.

📊

Negative for pathogenic variant

Alagille syndrome type 1 unlikely, but clinical correlation needed. Consider other genetic or non-genetic causes.

📊

Variant of uncertain significance

Further testing or family studies may be required. Consult a geneticist for guidance.

⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms such as jaundice, itching, or heart issues persist, or if there is a family history of Alagille syndrome.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may take 3-4 weeks

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestJAG1 Gene Alagille syndrome type 1 NGS Genetic TestLiver BiopsyCardiac EchoNOTCH2 Gene Test
ComparisonJAG1 Gene Alagille syndrome type 1 NGS Genetic Test

Frequently Asked Questions

What is Alagille syndrome type 1?
Alagille syndrome type 1 is a rare genetic disorder caused by mutations in the JAG1 gene, affecting the liver, heart, and other organs.
How is the JAG1 gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the JAG1 gene from a blood or saliva sample.
What are the common symptoms of Alagille syndrome?
Symptoms include jaundice, itching, pale stools, dark urine, abdominal pain, heart murmur, and eye abnormalities.
How much does the test cost?
The test costs INR 20,000 in India, with free home sample collection available.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What should I do before the test?
A genetic counseling session is recommended to discuss the test and provide family history.
What if the test results are positive?
Positive results confirm Alagille syndrome; consult a geneticist for management and family planning.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological implications.
Can the test detect all mutations?
NGS covers most mutations, but some large deletions may require additional testing.
Who should consider this test?
Individuals with symptoms of Alagille syndrome or a family history of the disorder should consider testing.
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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