Dysmorphic Screen


Description

This test includes aspartylglucosaminidase, alpha-neuraminidase, beta-galactosidase and arylsulphatase A in addition to plasma lysosomal enzymes.


Request a test

To request this test please send sample with a request providing patient ID (three identifiers), specimen information, assay required, relevant clinical details and sender information. Before sending sample please read details on requesting and labelling by clicking on the link. Please also refer to any additional information provided for this test. Download the referral form >


Additional information

Is a mucopolysaccharidosis suspected? If so please request urine GAGs,


Sending address

Chemical Pathology Reception
Level 1, Camelia Botnar Building
Great Ormond Street Hospital
Great Ormond Street
London
WC1N 3JH

Laboratory service

Chemical Pathology


Sample requirements

5-8 ml Lithium Heparin whole blood


Reference range

see report or contact laboratory


Disease / group

Lysosomal storage disorders


Cost

Upon request


Call in advance?

Not required


Chemical Pathology

The Chemical Pathology Laboratory provides an extensive range of services covering both routine biochemistry and specialised analysis and interpretation...

© 2011 Great Ormond Street Hospital for Children NHS Trust