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Disaccharidases, Jejeunal

Category Biochemistry >> Metabolic
Test background

Test involves measuring the enzyme activities of lactase, sucrase and maltase in intestinal mucosa, when a primary genetic defect is suspected.

Clinicial Indications

For the diagnosis of disaccharidase deficiency

Reference range

See report

Sample & container 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 Great Ormond Street Hospital  metabolic/enzyme laboratory directly for more information.