Pathology Handbook

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Methylation study for Prada -Willi Syndrome

Alternative Names:

Prada -Willi Syndrome
Prada Willi Syndrome

Laboratory:

Molecular

Test Code:

PWS

Medicare rebatable:

Specimen Types:

See Under Collection Instructions

Container Types:

EDTA 6 mL
Salivary Kit

Adults Volume or Mass:

5 mL

Minimum/Paediatric Volume or Mass:

1 mL

Collection & Request Instructions:

EDTA blood: Adults: 5 ml; Children: 1 ml

Saliva (please contact NPV laboratory for saliva kits) for VCGS testing

Transport Instructions:

Room Temperature

Assay Frequency:

Monthly

Additional Notes:

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.

Reporting time: Up to 6 weeks

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.

Contacts

Phone: 1300 11 8247
Email: vcgs@vcgs.org.au

USEFUL LINKS

Frozen Section Booking Form

Printable Pathology Request Form

Order of Draw - Blood Samples