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This methylation analysis via methylation-specific PCR (M-PCR) [Test Code: PWSASMETHYL] should be ordered first to efficiently identify individuals with Prader-Willi syndrome or Angelman syndrome due to 15q11.2-q13 deletions, UPD15, or imprinting abnormalities. Patients with ABNORMAL methylation pattern consistent with Angelman syndrome can reflex to chromosomal microarray analysis to evaluate for 15q11.2-q13 deletions [Test Code: SNPMA] or UPD15 analysis [Test Code: UNIDIS]. Patients with Angelman syndrome caused by mutations in the UBE3A gene have a NORMAL methylation pattern.
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