Chr. 15q11 Gene Angelman Syndrome NGS Genetic Test
Short Name: Angelman NGS Test
Also known as: Angelman Syndrome Molecular NGS Panel, UBE3A Gene Sequencing Test, Chromosome 15q11 Gene Analysis
Chr. 15q11 Gene Angelman Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing confirmation for clinically significant variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Samples are processed in batches after reaching the laboratory. Reports are typically released 3 to 4 weeks after sample receipt. Urgent requests may be supported; please contact DNA Labs India.. 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
The purpose of this NGS test is to identify pathogenic variants in the chromosome 15q11 region, especially the UBE3A gene, that cause Angelman syndrome. A definitive molecular diagnosis helps guide clinical management, surveillance, and family counseling.
- Test Code
- 3898
- CPT Code
- N/A
- ICD Code
- N/A
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Samples are processed in batches after reaching the laboratory. Reports are typically released 3 to 4 weeks after sample receipt. Urgent requests may be supported; please contact DNA Labs India.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing confirmation for clinically significant variants
Sample Collection
No fasting is required. A genetic counseling session will be performed to record clinical history and draw a pedigree chart. Written informed consent should be obtained, especially for genetic tests in children.
Method: Peripheral blood draw or FTA card spot collection
Laboratory Analysis
A trained phlebotomist will collect a small blood sample in an EDTA tube or a drop of blood on an FTA card. The procedure is quick and minimally uncomfortable.
Report Delivery
There are no restrictions after sample collection. The sample will be sent to the laboratory for NGS analysis. Reports are usually available within 3 to 4 weeks. Genetic counseling after the report is recommended.
Timeline: Samples are processed in batches after reaching the laboratory. Reports are typically released 3 to 4 weeks after sample receipt. Urgent requests may be supported; please contact DNA Labs India.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS test is to identify pathogenic variants in the chromosome 15q11 region, especially the UBE3A gene, that cause Angelman syndrome. A definitive molecular diagnosis helps guide clinical management, surveillance, and family counseling.
How to Prepare
- No fasting is required. Inform the lab about any current medications or supplements.
- Blood sample: collect in an EDTA vacutainer and mix gently to prevent clotting.
- FTA card: apply one drop of blood on the card, air dry, and store in a clean protective pouch.
- Clearly label the sample with the patient's full name, date of birth, and test request form details.
- Ship whole blood at 2-8°C or FTA card at room temperature to the laboratory.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling is essential before testing to document family history and after testing to explain recurrence risks. The referring physician should integrate the molecular report with the child's clinical phenotype."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Insufficient sample quantity
- Damaged, wet, or contaminated FTA card
- Mislabelled sample or missing test request form
Understanding Your Results
No pathogenic variant detected
No small pathogenic variants were found in the covered 15q11 region, but this does not exclude all causes of Angelman syndrome.
Recommended action: Consider methylation testing or chromosomal microarray if clinical suspicion remains high.
Pathogenic or likely pathogenic UBE3A variant detected
A genetic cause has been identified and supports the diagnosis of Angelman syndrome.
Recommended action: Genetic counseling and parental testing are recommended to assess recurrence risk.
15q11-q13 deletion/duplication detected
Copy-number change in the Angelman syndrome critical region is present; deletion is a common cause.
Recommended action: Confirm with MLPA/CMA and perform parental testing to establish the inheritance pattern.
Variant of uncertain significance (VUS)
The detected variant has unknown clinical significance.
Recommended action: Segregation analysis in parents and siblings, and further evaluation in a genetics clinic.
A neurologist or clinical geneticist should be consulted if the report is positive, inconclusive, or shows a variant of uncertain significance. Immediate follow-up is recommended to discuss management and recurrence risks.
Limitations
- ⚠This NGS panel may not detect large structural rearrangements, deep intronic variants, or repeat expansions.
- ⚠Methylation defects, uniparental disomy, and imprinting center defects require complementary methylation analysis, MLPA, or SNP array.
- ⚠A variant of uncertain significance (VUS) may require parental segregation studies to clarify its clinical role.
Risks & Considerations
- ●No significant medical risks from blood sample collection.
- ●Possible mild pain or bruising at the venepuncture site.
- ●Psychological impact of diagnostic or genetic test results; genetic counseling is strongly advised.
Interfering Factors
- ●Maternal cell contamination in neonatal blood samples
- ●Low quantity or degraded DNA
- ●Highly homologous pseudogene sequences in the 15q region
- ●Mosaicism below the detection limit of NGS
- ●Sample mislabelling or sample mix-up
Compare With Similar Tests
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Frequently Asked Questions
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