New developments


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New: Quantitative Citrulline Analysis


Material required

Please contact us if you require more information.

 

Download protocol (PDF, 239K)

New: Quantitative Galactose-1-Phosphate Analysis


Material required

Please contact us if you require more information.

 

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New: Lysosomal Storage Disorders Screen


We are offering this test as of 1 Augustus 2014. At the moment samples are sent to a laboratory in the USA, and from July 2015 this test will be conducted in our own laboratory.

Description of test

Lysosomal Storage Disorders Screen and DNA testing: Fabry disease (alpha-galactosidase), Krabbe - also known as globoid cell leukodystrophy / galactosylceramide lipidosis (galactocerebrosidase), Gaucher (ß-glucosidase), Niemann-Pick A / B (sphingomyelinase), MPS 1 (Hurler-, Hurler-Scheie-, Sheie syndrome), Pompe/Glycogen storage defect type II (Alpha-L-iduronidase).

Material required

Please contact us if you require more information.

 

Download protocol (PDF, 130K)

New: Trimethylamine aciduria /Fish odour disease (TMAU)


PLIEM provides a TMAU screening assay as spesified in the scope of tests. We however decided to launch a pilot study in which genetic testing for TMAU in conjunction with USA laboratory, Monell Chemical Senses Centreext link in Philadelphia will be performed.

Please contact us if you require further detail with regards to this project.

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