MECP2 Deletion/Duplication Analysis
Also known as: MECP2, Rett
Use
Detects single exon or multiexon deletions and duplication in the gene for methyl-CpG-binding protein 2 (MECP2), which causes Rett syndrome, a severe neurological disorder leading to regression of developmental behaviors and expressive language skills.
Special Instructions
Not provided.
Limitations
This assay does not detect point mutations or frameshift mutations in MECP2, regulatory or deep intronic variants, small CNVs (1‑2 exons), or balanced rearrangements such as inversions or translocations. Variant interpretation reflects current scientific understanding and may change over time. Test interpretation may also be affected by hematologic malignancy or prior allogeneic bone marrow transplantation.
Methodology
NGS
Biomarkers
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided