Angelman Syndrome-MS PCR
This test detects the genetic mutations responsible for Angelman syndrome, a neurodevelopmental disorder characterized by developmental delay and seizures. It uses methylation-specific PCR to analyze the UBE3A gene. Early diagnosis helps in managing the symptoms and providing genetic counseling.
Angelman Syndrome-MS PCR Test in Jalandhar Overview
No special preparations needed
- Preliminary Report
- Angelman Syndrome-ms Pcr
The UBE3A gene on chromosome 15 is deleted or inactivated in Angelman Syndrome, a genetic condition that can be diagnosed with the MS PCR (Methylation-Specific Polymerase Chain Reaction) test. Methylation anomalies in the area linked to the illness are detected by this test.
Angelman Syndrome should be evaluated in children who have intellectual challenges, communication problems, developmental delays, or distinctive behaviours such frequent laughter and hand flapping.
In order to use PCR to determine the methylation status of the UBE3A gene, a blood sample is obtained and DNA is extracted.
A positive result validates an Angelman Syndrome diagnosis by indicating the existence of methylation alterations
Speech therapy, occupational therapy, and special education are examples of early intervention that can enhance quality of life and developmental results.
Test code
RD1417
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Edta Whole Blood | Lavender Vacutainer | 3 ml |
Specimen stability information
Edta Whole Blood
Collection instructions
Clinical History
Specimen rejection criteria
Test run frequency
Every Day TIME - 09:30
Turn around time
8 Working Days
Performing locations
Department
- Advanced Molecular Diagnostics R&d
CPT and Loinc codes
Package price
₹6200
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₹6200