Rett Syndrome DNA Sequencing (Mecp2 Mutation)
DNA sequencing to detect mutations in the MECP2 gene, which is associated with Rett syndrome, a neurological disorder affecting development.
Rett Syndrome DNA Sequencing (Mecp2 Mutation) Test in Jalandhar Overview
No special preparations needed
- Specimen Source
- Preliminary Report
- Rett Syndrome Dna Sequencing Test (mecp2 Mutation)
This test involves sequencing the MECP2 gene to identify mutations associated with Rett Syndrome, a rare neurological disorder primarily affecting females.
It is used to confirm a diagnosis of Rett Syndrome in children with developmental regression, especially after normal early growth.
DNA is extracted from a blood sample and sequenced to look for mutations in the MECP2 gene.
A pathogenic mutation confirms the diagnosis of Rett Syndrome. Absence of mutation may not entirely rule it out, as some variants are undetectable with standard techniques.
No special preparation is needed, but a detailed clinical history is important for accurate interpretation.
Test code
RD1410
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Edta Whole Blood | Lavender Vacutainer | 10 |
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
₹5500
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₹5500