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Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

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FC3D<br />

91725<br />

C4U<br />

88829<br />

C4FX<br />

83391<br />

Advanced Diagnostic Laboratories<br />

1400 Jackson Street<br />

Denver, CO 80206-2761<br />

C3d Circulating Immune Complexes<br />

Reference Values:<br />

2-25 mcg Eq/mL<br />

<strong>Test</strong> Performed by: Quest Diagnostics Nichols Institute<br />

33608 Ortega Highway<br />

San Juan Capistrano, CA 92690-6130<br />

C4 Acylcarnitine, Quantitative, Urine<br />

Clinical Information: An isolated elevation of iso-/butyrylcarnitine (C4) in plasma or newborn<br />

screening blood spots is related to a diagnosis of either short chain acyl-CoA dehydrogenase (SCAD)<br />

deficiency or isobutyryl-CoA dehydrogenase (IBD) deficiency. Diagnostic testing, including the<br />

evaluation of C4 excretion in urine, is necessary to differentiate the 2 clinical entities. Patients with IBD<br />

deficiency excrete an abnormal amount of C4 acylcarnitine in urine, whereas patients with SCAD<br />

deficiency can have a normal excretion of this metabolite. The American College of <strong>Medical</strong> Genetics<br />

(ACMG) newborn screening work group published diagnostic algorithms for the follow-up of infants who<br />

had a positive newborn screening result. For further information, see http://www.acmg.net. See Newborn<br />

Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4<br />

acylcarnitine elevation) in Special Instructions for additional information.<br />

Useful For: Evaluation of patients with abnormal newborn screens showing elevations of C4 to aid in<br />

the differential diagnosis of short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase<br />

deficiencies<br />

Interpretation: Almost all patients with isobutyryl-CoA dehydrogenase deficiency excrete an<br />

abnormal amount of C4 in their urine. Some, but not all, affected individuals also excrete elevated levels<br />

of isobutyrylglycine. Conversely, patients with short-chain acyl-CoA dehydrogenase deficiency can have<br />

a normal excretion of C4. See Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations<br />

(also applies to any plasma C4 acylcarnitine elevation) in Special Instructions for additional information.<br />

Reference Values:<br />

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