Note:
For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
Urgent TAT for prenatal/neonatal analysis: 2 weeks
The methylation sensitive multiplex ligation-dependent probe amplification (MS-MLPA) kit ME028-D1 from MRC-Holland is used to detect copy number changes and to assess the methylation status of sequences within the Prader-Willi/Angelman region at chromosome 15q11.
Analysis was performed using Coffalyser.Net.
The sensitivity of this assay is estimated to be 99% for Prader-Willi syndrome and 80% for Angelman syndrome.
This assay may detect Prader-Willi/Angelman syndrome mosaicism when >50% affected cells are present in the sample.
For diagnostic testing for Prader-Willi Syndrome (PWS) or Angelman Syndrome (AS)
IMPORTANT NOTES: details of the patient phenotype must be provided. Failure to provide relevant clinical details may delay testing.
REFERRAL REQUIREMENTS:
Diagnostic testing requires referral through Paediatrics, Neurology or Genetic Services.
CONTACT:
Genetic Health Service NZ can be contacted on 0800 476 123.
General Paediatrics can be contacted on (09) 307 4949 ext. 22559.
Neurology can be contacted on (09) 307 4949 ext. 25662.
To contact the Molecular Genetics team:
Auckland City Hospital
(09) 307 4949
Lablink
ext 22000
Molecular Genetics Office
ext 22014
Transport all bloods between >8 degrees C to < 25 degrees C within 24-48 hours. If necessary specimens can be refrigerated overnight (4 degrees C) for transport at the temperatures stated above the following day.
For testing of other sample types please contact the laboratory prior to sending.