Imperial Collage Healthcare

Disaccharidases, Jejeunal


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.


Turnaround Time

Up to 12 Weeks


Notes

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.

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