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. |
| Clinical 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. |