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Sorted By Test Name - Mayo Medical Laboratories

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C5OHU<br />

88830<br />

MAC<br />

81374<br />

C6FX<br />

83393<br />

approximately 1 in 100,000 individuals. The American College of <strong>Medical</strong> Genetics (ACMG) newborn<br />

screening work group published diagnostic algorithms for the follow-up of infants who had a positive<br />

newborn screening result. For further information, see http://www.acmg.net.<br />

Useful For: Evaluation of patients with an abnormal newborn screen showing elevations of C5-DC<br />

Diagnosis of glutaric aciduria type 1 deficiency<br />

Interpretation: Elevated excretion of C5-DC is a specific biochemical marker of glutaric aciduria type<br />

1 that is elevated in affected patients, apparently even in low excretors or those affected individuals with<br />

normal levels of glutaric acid in urine.<br />

Reference Values:<br />

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