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ADA2 Gene Sneddon syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ADA2 Gene Sneddon syndrome NGS Genetic Test

Short Name: ADA2 Gene Test

Also known as: ADA2 Gene Mutation Test, Sneddon Syndrome Genetic Test, Adenosine Deaminase 2 Gene Test

ADA2 Gene Sneddon syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the ADA2 gene that cause Sneddon syndrome, aiding in accurate diagnosis, genetic counselling, family planning, and personalized treatment strategies.

Test Code
5347
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Patient should provide detailed clinical history and undergo a genetic counselling session to draw a pedigree chart of family members.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture under standard aseptic conditions.

Step 3

Report Delivery

The sample is labeled, stored at ambient room temperature, and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counselling and clinical evaluation to assess symptoms and family history.
2
During the Test:Blood sample collection, DNA extraction, and NGS analysis of the ADA2 gene.
3
After the Test:Report generation, interpretation by geneticists, and follow-up counselling.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the ADA2 gene that cause Sneddon syndrome, aiding in accurate diagnosis, genetic counselling, family planning, and personalized treatment strategies.

How to Prepare

  • No fasting required, but avoid strenuous activity before collection
  • Inform the healthcare provider about any medications or supplements
  • Ensure proper identification and labeling of the sample

Doctor's Notes

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

"Early genetic testing for ADA2 mutations can aid in timely diagnosis and management of Sneddon syndrome, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Refrigerate at 2-8°C if analysis is delayed beyond 24 hours
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect sample container or labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the ADA2 gene associated with Sneddon syndrome, guiding clinical management.
📊

Positive for pathogenic variant

Mutation detected, consistent with Sneddon syndrome; clinical correlation and genetic counselling recommended.

📊

Negative for pathogenic variant

No mutation detected; but clinical symptoms may require further evaluation or alternative diagnoses.

📊

Variant of uncertain significance

Genetic variant identified but clinical significance unknown; additional testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms persist, test results are positive, or for family planning and genetic counselling.

Limitations

  • May not detect all genetic variants or mutations
  • Does not rule out other genetic or vascular conditions
  • Requires genetic counselling for accurate interpretation

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection at the puncture site
  • Psychological impact of genetic results; counselling is provided

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Hemolyzed blood sample

Compare With Similar Tests

TestADA2 Gene Sneddon syndrome NGS Genetic TestWhole Exome SequencingSanger Sequencing for ADA2
ComparisonADA2 Gene Sneddon syndrome NGS Genetic Test

Frequently Asked Questions

What is Sneddon syndrome?
Sneddon syndrome is a rare genetic disorder characterized by blood clots in small to medium blood vessels, affecting skin and the central nervous system, leading to symptoms like skin discoloration and strokes.
What causes Sneddon syndrome?
It is primarily caused by mutations in the ADA2 gene, which encodes an enzyme involved in immune regulation and blood vessel function.
What are the common symptoms of Sneddon syndrome?
Symptoms include livedo reticularis (skin discoloration), migraines, transient ischemic attacks (TIAs), strokes, memory loss, seizures, and limb weakness.
How is Sneddon syndrome diagnosed?
Diagnosis involves clinical evaluation, imaging tests, and genetic testing such as the ADA2 gene NGS test to identify mutations.
What is the ADA2 gene?
The ADA2 gene provides instructions for making adenosine deaminase 2, an enzyme that helps regulate inflammation and blood vessel function.
What does the NGS genetic test for ADA2 involve?
It uses Next-Generation Sequencing to analyze the DNA sequence of the ADA2 gene for mutations associated with Sneddon syndrome.
How much does the ADA2 gene test cost?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
Can Sneddon syndrome be treated?
While there is no cure, symptoms can be managed with medications, lifestyle changes, and regular monitoring to prevent complications.
Is genetic testing necessary for all patients with suspected Sneddon syndrome?
Genetic testing is recommended for confirmation, especially if clinical symptoms are present, to guide treatment and family counselling.
What should I do if my test results are positive?
Consult a geneticist or specialist for interpretation, discuss management options, and consider genetic counselling for family members.
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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