Multiple enzyme screen (Dysmorphic screen)


Dysmorphic screen


Chemical Pathology - Enzyme

Clinical indications

For diagnosis of a potential lysosomal disorder where the patient has dysmorphic features. Multiple enzymes are analysed in this grouped enzyme screen after a mucopolysaccharidosis disorder is excluded

Specimen requirement

5 - 10 mL lithium heparin whole blood

Dispatch and handling instructions

Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection

Turnaround time

4 to 6 weeks


Dysmo screen

Is it IS0 15189 accredited?