Angelman Syndrome/Prader‑Willi Syndrome Methylation Analysis
Use
Used for diagnostic assessment of Angelman syndrome (AS) and Prader‑Willi syndrome (PWS) by detecting abnormal methylation patterns or deletions in the 15q11.2–q13 imprinting region. Enables differentiation among mechanisms such as paternal uniparental disomy (UPD), imprinting center defects, and deletions affecting UBE3A or SNRPN, informing clinical diagnosis and genetic counseling.
Special Instructions
Orderable via the GeneDx neurodevelopmental disorders test requisition menu under code TJ27 (“Angelman Syndrome/Prader‑Willi Syndrome Methylation MLPA (UPD, deletion)”). Details available in GeneDx Test Menu, requisition form “NEUROLOGY TEST REQUISITION FORM” ([genedx.com](https://www.genedx.com/wp-content/uploads/2024/11/90999-Neuro-TRF-v241029.pdf?utm_source=openai)).
Limitations
MS‑MLPA identifies common deletions, methylation defects, and UPD but cannot distinguish between all underlying mechanisms—further testing may be required. Not all imprinting center defects are detected; rare primer-binding site variants, polymorphisms, or balanced translocations may lead to false negatives or positives. Interpretation must consider clinical context.
Methodology
Immunoassay (Multiplex Protein Panel)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided