Rett Syndrome DNA Sequencing (Mecp2 Mutation)
Overview of Rett Syndrome DNA Sequencing (Mecp2 Mutation) in Kasaragod
What is the Rett Syndrome DNA Sequencing test?
This test involves sequencing the MECP2 gene to identify mutations associated with Rett Syndrome, a rare neurological disorder primarily affecting females.
Why is this test done?
It is used to confirm a diagnosis of Rett Syndrome in children with developmental regression, especially after normal early growth.
How is the test performed?
DNA is extracted from a blood sample and sequenced to look for mutations in the MECP2 gene.
What do the results mean?
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.
Are there any precautions or preparations required?
No special preparation is needed, but a detailed clinical history is important for accurate interpretation.
Test included
- Specimen Source
- Preliminary Report
- Rett Syndrome Dna Sequencing Test (mecp2 Mutation)
Doctor information
Test code
RD1410
CPT and Loinc codes
Department
- Advanced Molecular Diagnostics R&d
Turn around time
8 Working Days
Test run frequency
Every Day TIME - 09:30
Performing locations
1 labs across India
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Edta Whole Blood | Lavender Vacutainer | 10 |
Specimen stability information
Edta Whole Blood
Collection instructions
Clinical History
Test price
₹5500
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