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NOTCH2 Gene Alagille syndrome type 2 NGS Genetic Test

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NOTCH2 Gene Alagille syndrome type 2 NGS Genetic Test

Short Name: NOTCH2 Alagille Syndrome NGS Test

Also known as: Alagille Syndrome type 2, NOTCH2-related Alagille Syndrome

NOTCH2 Gene Alagille 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. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the NOTCH2 gene that cause Alagille Syndrome Type 2, enabling accurate diagnosis, genetic counseling, and informed medical management for affected individuals and their families.

Test Code
5645
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)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling as recommended.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein, or a drop of blood collected on an FTA card.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Results are analyzed in a lab, and a report is generated with genetic counseling.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the NOTCH2 gene that cause Alagille Syndrome Type 2, enabling accurate diagnosis, genetic counseling, and informed medical management for affected individuals and their families.

How to Prepare

  • Ensure the patient is calm and hydrated
  • Use sterile equipment for blood collection
  • Label the sample correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for Alagille Syndrome is crucial for early diagnosis and management, especially in pediatric cases with liver or heart symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples: Stable at room temperature for 24 hours
FTA cards: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrectly labeled or insufficient sample volume
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the NOTCH2 gene. A positive result confirms Alagille Syndrome Type 2, while a negative result may require further clinical evaluation.
Pathogenic variant detected: Confirms diagnosis; refer for specialist management
No pathogenic variant detected: Symptoms may be due to other causes; consider additional tests
Variant of uncertain significance: Requires further analysis and genetic counseling
⚠️ When to Consult a Doctor:

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

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling provided

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Previous blood transfusions affecting DNA analysis

Compare With Similar Tests

TestNOTCH2 Gene Alagille syndrome type 2 NGS Genetic TestJAG1 Gene Alagille Syndrome NGS TestComprehensive Liver Panel
ComparisonNOTCH2 Gene Alagille syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is the NOTCH2 Gene Alagille Syndrome NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the NOTCH2 gene, which causes Alagille Syndrome Type 2.
What is the cost of this test in India?
The test costs INR 20000, with free home sample collection available across India.
Who should consider this test?
Individuals with symptoms like jaundice, heart murmurs, or growth issues, or those with a family history of Alagille Syndrome.
How is the sample collected?
A blood sample is drawn from a vein, or a drop of blood is collected on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the results indicate?
Results show if there are mutations in the NOTCH2 gene. A positive result confirms Alagille Syndrome Type 2.
Is genetic counseling provided?
Yes, a genetic counseling session is included to help interpret results and draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw. Psychological support is available through counseling.
Can this test be done at home?
Yes, free home sample collection is available for online bookings in many cities across India.
What if the test result is negative?
A negative result may mean symptoms are due to other causes. Consult a doctor for further evaluation.
Is the test covered by insurance?
Coverage depends on your insurance plan. Check with your provider for details.
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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