Overview

Prader-Willi syndrome (PWS) is characterised by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity. All individuals have some degree of cognitive impairment. PWS has multiple genetic causes, all affecting chromosome region 15q11.1-q11.3. Whilst the SNRPN gene is the site used for testing, PWS is a multigenic disorder.

Category

Cost

All patients: $196.35 (Medicare rebate $196.35 bulk billed)

Non-Medicare patients: $230.95

Reporting time

Up to 6 weeks

Contacts

David Francis

Phone (03) 8341 6258 (Lab)

Phone (03) 8341 6282 (direct)

Specimen Requirements

EDTA blood: Adults/Children: 5 ml

Saliva (please contact laboratory for saliva kits)

Notes

The Prader-willi methylation analysis detects 99% of Prader-Willi syndrome positive cases. Positive test results may need additional testing of the proband and parents (microarray) to determine etiology and recurrence risk. Please note: the Prader-Willi syndrome DNA test can not be performed at the same time as a microarray without additonal costs. Contact Lab for more information.

Genes tested