UBE3A Gene Angelman Syndrome NGS Genetic Test
Short Name: UBE3A NGS
Also known as: Angelman Syndrome NGS Panel, UBE3A Gene Sequencing, Angelman Syndrome Genetic Test
UBE3A Gene Angelman Syndrome 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 after sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To confirm or rule out pathogenic variants in the UBE3A gene in individuals with clinical features of Angelman syndrome; to support a molecular diagnosis, facilitate accurate genetic counselling, and guide management and recurrence-risk assessment.
- Test Code
- 3895
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. Please carry any prior genetic reports, neurodevelopmental assessments, and family history documents. A genetic counselling session is recommended before testing to help draw a detailed pedigree chart.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood are applied to the card and allowed to dry.
Report Delivery
No special precautions are needed after sample collection. You may resume normal activities.
Timeline: 3 to 4 weeks after sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To confirm or rule out pathogenic variants in the UBE3A gene in individuals with clinical features of Angelman syndrome; to support a molecular diagnosis, facilitate accurate genetic counselling, and guide management and recurrence-risk assessment.
How to Prepare
- Submit the signed consent form for genetic testing.
- Provide clinical summary, pedigree chart, and relevant medical records.
- Ensure the laboratory requisition form matches the patient details exactly.
- For infants, heel-prick blood spot can be used on FTA card.
- Store blood sample at room temperature and transport within 48 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Angelman syndrome is a clinical diagnosis supported by genetic testing. A positive UBE3A result can help in counseling the family; however, negative results require a broader genomic approach and close collaboration with a clinical geneticist."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood with insufficient DNA quantity
- Improperly labelled sample
- Uninformative consent or no clinical details
- Sample leaked in transit
- Old or denatured DNA
Understanding Your Results
Pathogenic/likely pathogenic variant in UBE3A
Confirms molecular diagnosis of UBE3A-related Angelman syndrome. Genetic counselling and family screening are recommended.
Variant of uncertain significance (VUS)
Insufficient evidence to classify as benign or pathogenic. Additional family studies or functional analyses may be needed.
No pathogenic variant detected
Does not rule out Angelman syndrome. Methylation-specific PCR, chromosomal microarray, or imprinting centre analysis should be considered if clinical suspicion remains high.
Benign variant only
No diagnostic contribution; clinical correlation still required.
If the test is positive, consult a clinical geneticist or neurologist for a comprehensive care plan. If negative but clinical suspicion is high, follow-up testing and multidisciplinary review should be arranged.
Limitations
- ⚠NGS may not reliably detect large deletions, duplications, or methylation changes involving UBE3A
- ⚠Tests may not detect deep intronic variants, large structural rearrangements, or mosaicism
- ⚠A negative result does not exclude Angelman syndrome caused by non-UBE3A mechanisms
- ⚠Results must be interpreted in the context of clinical findings
Risks & Considerations
- ●Minor discomfort at venipuncture site
- ●Bruising or bleeding
- ●Rare risk of infection
- ●No significant medical risks associated with genetic testing; however, emotional or psychological stress may occur from result implications
Interfering Factors
- ●Contaminated or degraded DNA may lead to sequencing failure
- ●Very low DNA concentration
- ●PCR inhibitors from haemolysed samples
- ●Rare variants in primer or probe binding sites
- ●Sample mix-up or mislabelling (pre-analytical)
Compare With Similar Tests
| Test | UBE3A Gene Angelman Syndrome NGS Genetic Test | UBE3A NGS (Current test) | Methylation-specific PCR | Chromosomal Microarray (CMA) | FISH |
|---|---|---|---|---|---|
| Comparison | UBE3A Gene Angelman Syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the UBE3A Gene Angelman Syndrome NGS Genetic Test at DNA Labs India?
Which sample is required for the UBE3A NGS test?
Do I need to fast before the test?
What does this NGS genetic test detect?
Can NGS detect all causes of Angelman syndrome?
How long will the reports take?
Is home sample collection available?
Is genetic counselling included with the test?
Will I receive raw data files along with the clinical report?
What does a negative NGS result mean?
Who should consider this test?
Is the test safe for children?
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