Rett/Angelman Related Disorders Panel
Use
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
Includes MS‑MLPA to evaluate abnormal methylation of UBE3A; note that deletion/duplication testing of FOXG1 is not included, and only whole‑gene del/dup may be detected for PCDH19 and SHANK3.
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.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided