Casandra
Casandra Test Code GE39942Version 1 (DRAFT)
Performing Lab
Rett/Angelman Related Disorders Panel
Clinical Use
Order TestUse
This panel includes sequence and deletion/duplication analysis of genes associated with Rett syndrome, Angelman syndrome, and related neurodevelopmental disorders presenting with epilepsy, developmental delay/regression, movement disorders, and intellectual disability.
Special Instructions
Not provided.
Limitations
Deletion/duplication testing does not cover FOXG1; only whole‑gene del/dup detection is possible for PCDH19 and SHANK3; methylation analysis via MS‑MLPA covers UBE3A only. GeneDx may update genes or technical parameters over time.
Test Details
Methodology
NGS (Targeted)
Biomarkers
Mutation (25 genes)
ATRXCDKL5CNTNAP2CTNNB1DDX3XDYRK1AEHMT1FOXG1GABBR2IQSEC2KCNA2MBD5MECP2MEF2CNRXN1PCDH19SATB2SHANK3SLC9A6STXBP1TBL1XR1TCF4UBE3AWDR45ZEB2
Result Turnaround Time
42 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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