Rett Syndrome via the MECP2 Gene
Use
This test is for individuals with relevant clinical features who have a suspected or confirmed diagnosis of Rett syndrome. It is specifically designed to evaluate the MECP2 gene, which is commonly associated with Rett syndrome. This test can provide genetic confirmation of Rett syndrome in the context of clinical evaluations, aiding in the diagnosis and subsequent management of the condition.
Special Instructions
For ordering, you can use the test requisition form available on the website. It is recommended to specify any additional family testing or reflexive testing options on the form. Standard institutional pricing is available upon signing in.
Limitations
The test specifically targets the MECP2 gene using NGS with CNV analysis. It may not detect all genetic variations associated with Rett syndrome, especially if they are located outside the examined genomic regions. The accuracy of the test is contingent upon proper sample collection and compliance with specified testing criteria.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided