Test Background Test involves measuring the enzyme activities of lactase, sucrase and maltase in intestinal mucosa, when a primary genetic defect is suspected.
Clinical Indications For the diagnosis of disaccharidase deficiency
Reference Range See report
Sample Required Biopsy tissue should be removed from the collecting capsule and immediately wrapped in aluminium foil, placed in a small (2 ml), polypropylene tube and snap frozen in liquid nitrogen in a Dewar flask. A minimum of 2mg of tissue is required.
Up to 12 Weeks
Please note that samples do not originate from the Charing Cross site as patients involved are <18 years of age. The “home” site of the patient should have procedures for handling liquid nitrogen.
Not currently performed in house; this is a referred test. Please contact GOSH metabolic/enzyme laboratory directly for more information.