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Disaccharidase Activity Panel, Tissue
Test Code13689
CPT Codes
82657 (x6)<br><strong>This test is for New York patient testing. For non-New York patient testing, see test code 19701.</strong>
Includes
Lactase
Sucrase
Maltase
Palatinase
Glucoamylase
Sucrase
Maltase
Palatinase
Glucoamylase
Preferred Specimen
5 mg frozen intestinal biopsy tissue submitted in a clean screw-top plastic vial
Minimum Volume
5 mg
Instructions
Specimen should not be placed on gauze or filter paper, nor should any saline, support or embedding material be added.
Freeze immediately after collection and ship frozen.
Freeze immediately after collection and ship frozen.
Transport Temperature
Frozen
Specimen Stability
Room temperature: Unacceptable
Refrigerated: Unacceptable
Frozen: 28 days
Refrigerated: Unacceptable
Frozen: 28 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Specimens sent in formaldehyde, saline or any supportive media • Gauze • Filter paper • Foil • Swabs
Methodology
Spectrophotometry (SP)
FDA Status
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US food and Drug Administration.
Setup Schedule
Set up: Mon-Fri; Report available: 3-5 days
Reference Range
| Lactase | ≥14.0 nmol/min/mg protein |
| Sucrase | ≥19.0 nmol/min/mg protein |
| Maltase | ≥70.0 nmol/min/mg protein |
| Palatinase | ≥6.0 nmol/min/mg protein |
| Glucoamylase | ≥8.0 nmol/min/mg protein |
Clinical Significance
Useful for
Evaluation of patients who present with signs or symptoms suggestive of disaccharidase disorders. This test is not intended for carrier detection.
Genetics test information
Diagnostic testing for patients with clinical signs and symptoms suspicious of a disaccharidase deficiency.
Clinical Information
Disaccharidases in the small intestines are responsible for the breakdown of disaccharides (double sugars) into monosaccharides (simple sugars). Patients with a deficiency of 1 or more disaccharidase enzymes can experience intolerance to foods containing complex sugars resulting in a range of gastrointestinal symptoms including diarrhea or constipation, abdominal pain and cramping, gas, bloating, and nausea. In addition, patients may experience malnutrition, weight loss, or failure to thrive. Given the nonspecificity and frequency of abdominal symptoms, misdiagnosis or a diagnostic delay of disaccharide deficiencies may occur.
Primary and secondary causes of disaccharidase deficiencies exist, and age of onset may vary from birth through adulthood. Primary causes are rare and result from genetic alterations in a variety of genes. Secondary deficiencies typically result from small intestinal mucosal damage. Treatment of both primary and secondary disaccharidase deficiencies involves dietary management. While primary deficiencies require lifelong treatment, secondary disaccharidase deficiencies may require treatment only until the intestinal lining recovers.
Interpretation
Quantitative values of lactase, sucrase, maltase, palatinase, and glucoamylase are reported. Clinical interpretation of results is provided.
Cautions
This test will not distinguish between primary and secondary causes of disaccharidase deficiencies.
Evaluation of patients who present with signs or symptoms suggestive of disaccharidase disorders. This test is not intended for carrier detection.
Genetics test information
Diagnostic testing for patients with clinical signs and symptoms suspicious of a disaccharidase deficiency.
Clinical Information
Disaccharidases in the small intestines are responsible for the breakdown of disaccharides (double sugars) into monosaccharides (simple sugars). Patients with a deficiency of 1 or more disaccharidase enzymes can experience intolerance to foods containing complex sugars resulting in a range of gastrointestinal symptoms including diarrhea or constipation, abdominal pain and cramping, gas, bloating, and nausea. In addition, patients may experience malnutrition, weight loss, or failure to thrive. Given the nonspecificity and frequency of abdominal symptoms, misdiagnosis or a diagnostic delay of disaccharide deficiencies may occur.
Primary and secondary causes of disaccharidase deficiencies exist, and age of onset may vary from birth through adulthood. Primary causes are rare and result from genetic alterations in a variety of genes. Secondary deficiencies typically result from small intestinal mucosal damage. Treatment of both primary and secondary disaccharidase deficiencies involves dietary management. While primary deficiencies require lifelong treatment, secondary disaccharidase deficiencies may require treatment only until the intestinal lining recovers.
Interpretation
Quantitative values of lactase, sucrase, maltase, palatinase, and glucoamylase are reported. Clinical interpretation of results is provided.
Cautions
This test will not distinguish between primary and secondary causes of disaccharidase deficiencies.
