MECP2 Single Gene Analysis
Use
Diagnostic testing for genetic variants in the MECP2 gene associated with disorders such as Rett syndrome.
Special Instructions
Not provided.
Limitations
This assay may not consistently detect mosaicism or large chromosomal aberrations including rearrangements and inversions that do not change copy number; it does not detect repeat expansions. False positives or negatives may occur due to rare variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue‑specific mosaicism/heteroplasmy, mislabeling, or incomplete clinical information.
Methodology
NGS (Targeted)
Biomarkers
MECP2
Gene
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender‑top (EDTA) tube
Collection Instructions
standard phlebotomy
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
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