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Sorted By Test Name - Mayo Medical Laboratories

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ANAT<br />

8783<br />

incidence of alpha-mannosidosis is estimated at 1 in 500,000 live births. A diagnostic workup for<br />

alpha-mannosidosis may demonstrate slight elevations of oligosaccharides in urine (OLIGO/84340<br />

Oligosaccharide Screen, Urine). Reduced or absent enzyme activity of acid alpha-mannosidase in<br />

leukocytes can confirm a diagnosis. Sequencing of the MAN2B1 gene allows for detection of<br />

disease-causing mutations in affected patients and identification of familial mutations allows for testing of<br />

at-risk family members.<br />

Useful For: Diagnosis of alpha-mannosidosis<br />

Interpretation: Values or =16 years: 1.04-2.68 U/10(10) cells<br />

Reference values have not been established for patients that are

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