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Test ID: DSAC Disaccharidase Activity Panel, Tissue


Shipping Instructions


Freeze immediately after collection and ship frozen.



Specimen Required


Specimen Type: Tissue

Source: Intestinal biopsy

Container/Tube: Clean, screw-topped plastic vial

Specimen Volume: 5 mg

Collection Instructions: Specimen should not be placed on gauze or filter paper, nor should any saline, support or embedding material be added.


Forms

Biochemical Genetics Patient Information (T602) in Special Instructions

Useful For

Evaluation of patients who present with signs or symptoms suggestive of disaccharidase disorders

 

This test is not intended for carrier detection.

Method Name

Spectrophotometry

Reporting Name

Disaccharidase Activity Panel, Ts

Specimen Type

Tissue

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Tissue Frozen 28 days OTHER

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.

Reference Values

Lactase: <14.0 nM/min/mgram protein (abnormal)

Sucrase: <19.0 nM/min/mgram protein (abnormal)

Maltase: <70.0 nM/min/mgram protein (abnormal)

Palatinase: <6.0 nM/min/mgram protein (abnormal)

Glucoamylase: <8.0 nM/min/mgram protein (abnormal)

Interpretation

Quantitative values of lactase, sucrase, maltase, palatinase, and glucoamylase are reported. Clinical interpretation of results is provided.

Clinical Reference

Cohen SA, Oloyede H, Gold BD, Mohammed A, Elser HE: Clinical characteristics of disaccharidase deficiencies among children undergoing upper endoscopy. J Pediatr Gastroenterol Nutr. 2018 Jun;66 Suppl 3:S56-S60

Day(s) Performed

Preanalytical processing occurs Monday through Friday

Testing performed: Varies

Report Available

5 to 10 days

Test Classification

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.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
DSAC Disaccharidase Activity Panel, Ts 57765-0

 

Result ID Test Result Name Result LOINC Value
608237 Lactase 81315-4
608238 Sucrase 30372-7
608239 Maltase 30315-6
608240 Palatinase 81314-7
608241 Glucoamylase 81322-0
608242 Interpretation 57779-1
608243 Reviewed By 18771-6
Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical