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Collection Requirements
Source: blood
Container: EDTA lavender
Volume:
Preferred: 3 mL in vacutainer
Minimum: 1 mL in vacutainer
Turn Around Time
14 days
Availability
Routine
Lab Processing Instructions
Specimen: whole blood
Room temperature or refrigerate
Performing Laboratory
Adele Hall
Adele Hall Lab Section
Molecular Genetics
Instrumentation/Methodology
MS-MLPA (methylation sensitive multiple ligation probe assay)is used to detect copy number changes and methylation status of Chromosome 15
Additional Information
Angelman syndrome (AS) is an imprinting disorder caused by abnormal imprinting or deletion of chromosomal region 15p11.2-q13 on the maternally-inherited chromosome. AS is characterized by severe intellectual disablity, absent speech, gait ataxia and/or tremors of the limbs, and inappropriate laughter. In addition, microcephaly and seizures are common.
Reference Ranges
See interpretative report
CPT
81331