Dysmorphic Screen


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.

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

Laboratory service

Chemical Pathology

Sample requirements

5-8 ml Lithium Heparin whole blood at ambient temperature received within 24 hours of phlebotomy

Reference range

see report or contact laboratory

Disease / group

Lysosomal storage disorders, MPS


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.

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