Multiple enzyme screen (Dysmorphic screen)

Dysmorphic screen

Chemical Pathology - Enzyme

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

5 - 10 mL lithium heparin whole blood

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

4 to 6 weeks

Dysmo screen

Yes