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Prader-Willi Syndrome

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

Prader-Willi syndrome (PWS) is an imprinting disorder caused by abnormal imprinting or deletion of chromosomal region 15p11.2-q13 on the paternally-inherited chromosome. PWS is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later childhood by excessive eating and gradual development of morbid obesity, unless externally controlled. Cognitive impairment, hypogonadism, short stature, and small hands and feet are common.

Reference Ranges

See interpretive report

CPT

81331