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DNA Labs India

Angelman Syndrome Test

DNA Labs India | ISO 9001:2015 Certified

Angelman Syndrome Test

Also known as: Angelman Syndrome Genetic Test, UBE3A Gene Test

Angelman Syndrome Test test available at DNA Labs India for ₹10,000. Uses Methylation specific PCR on Whole blood samples. Results in Reports available within 12 working days from sample receipt.. Free home collection in 300+ cities across India.

Genetic TestingPediatric🏠 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

The purpose of the Angelman Syndrome test is to confirm the diagnosis of Angelman Syndrome by detecting genetic mutations in the UBE3A gene, aiding in early intervention and management planning for affected individuals.

Test Code
126
Price
₹10,000
Sample Type
Whole blood
Result Time
Reports available within 12 working days from sample receipt.
Fasting Required
No
Method
Methylation specific PCR
Step 1

Sample Collection

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. Ensure all clinical details are provided for accurate testing.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques. Inform the collector of any medications or health conditions.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Keep the sample refrigerated as per instructions.

Timeline: Reports available within 12 working days from sample receipt.

Patient Instructions

1
Before the Test:Complete the Genomics Clinical Information Requisition Form and avoid eating or drinking that may affect sample quality (fasting not required).
2
During the Test:Blood sample collection via venipuncture; minimal discomfort expected.
3
After the Test:Resume normal activities. Results will be available online after processing.

About This Test

Who Should Get This Test

The purpose of the Angelman Syndrome test is to confirm the diagnosis of Angelman Syndrome by detecting genetic mutations in the UBE3A gene, aiding in early intervention and management planning for affected individuals.

How to Prepare

  • Fill Genomics Clinical Information Requisition Form (Form 20) completely
  • Collect 4 mL whole blood in Lavender top (EDTA) tube
  • Ship sample refrigerated; do not freeze
  • Ensure sample reaches lab within stability period

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing Angelman Syndrome and improving developmental outcomes in children."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume4 mL (2 mL min.)
ContainerLavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Refrigerator: 1 week
Frozen: Not applicable
Sample Rejection Criteria:
  • Insufficient sample volume (<2 mL)
  • Use of incorrect container (not EDTA tube)
  • Missing or incomplete requisition form
  • Sample not refrigerated or frozen

Understanding Your Results

Results indicate the presence or absence of genetic abnormalities associated with Angelman Syndrome. Interpretation should be done by a geneticist or healthcare professional.
Positive Result: Methylation abnormality detected, consistent with Angelman Syndrome diagnosis
Negative Result: No methylation defect found; clinical evaluation may be needed for other causes
Inconclusive: Further testing or clinical correlation recommended
⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms such as developmental delays, seizures, or movement abnormalities are present, or for genetic counseling based on test results.

Limitations

  • ⚠May not detect all genetic variants causing Angelman Syndrome
  • ⚠Requires clinical correlation for diagnosis
  • ⚠Limited to methylation abnormalities; other mechanisms may need additional tests

Risks & Considerations

  • ●Minor pain or bruising at the needle insertion site
  • ●Rare risk of infection or excessive bleeding

Interfering Factors

  • ●Improper sample handling or storage
  • ●DNA degradation due to delays in processing
  • ●Contamination of blood sample

Compare With Similar Tests

TestAngelman Syndrome TestFragile X Syndrome Test
ComparisonAngelman Syndrome Test

Frequently Asked Questions

What is Angelman Syndrome?
Angelman Syndrome is a genetic disorder affecting the nervous system, causing developmental delays, intellectual disabilities, and characteristic behaviors like lack of speech and seizures.
How is Angelman Syndrome diagnosed?
Diagnosis involves genetic testing, such as Methylation specific PCR for UBE3A gene mutations, along with clinical evaluation and sometimes chromosomal or brain imaging tests.
What is the cost of the Angelman Syndrome test in India?
The test costs INR 10000, which includes home sample collection and report generation.
Is fasting required for the test?
No, fasting is not required. However, a duly filled Genomics Clinical Information Requisition Form is mandatory.
What sample is needed for the test?
4 mL of whole blood collected in a Lavender top (EDTA) tube is required.
How long does it take to get results?
Results are typically available within 12 working days from sample receipt.
Is home collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
What does a positive result mean?
A positive result indicates a methylation abnormality in the UBE3A gene, supporting a diagnosis of Angelman Syndrome.
Can the test detect all cases of Angelman Syndrome?
The test can confirm diagnosis in up to 80% of cases; some variants may require additional testing.
Who should consider this test?
Children exhibiting symptoms like developmental delays, lack of speech, seizures, or uncoordinated movements should be evaluated.
What are the risks of the test?
Risks are minimal, including slight pain or bruising at the blood draw site.
How should I prepare for the test?
Fill out the Genomics Clinical Information Requisition Form and ensure the blood sample is collected and shipped refrigerated without freezing.
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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