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Printable Test Catalog - OU Medicine

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REFERENCE RANGE: Erythritol: 55 - 192 mmoles/mole creatinine<br />

Xylitol: 5 - 49 mmoles/mole creatinine<br />

Ribitol: 8 - 24 mmoles/mole creatinine<br />

Arabitol: 32 - 88 mmoles/mole creatinine<br />

Galactitol: 3 - 81 mmoles/mole creatinine<br />

METHODOLOGY: Gas Chromatography/Mass Spectroscopy (GC/MS)<br />

CPT: 82544; 82570<br />

[POMPENZ] Pompe Disease<br />

SPECIMEN REQUIRED: Whole blood at room temperature<br />

TUBE OR CONTAINER: Lavender (EDTA)<br />

SPECIAL HANDLING: Must be received in lab by 1:30 pm<br />

Monday-Thursday only<br />

SPECIMEN VOLUME: 10 ml<br />

MINIMUM VOLUME: 5 mL<br />

TEST AVAILABILITY: Monday-Thursday<br />

TURNAR<strong>OU</strong>ND TIME: 7-10 days<br />

REFERENCE RANGE:<br />

OTHER NAMES: Acid alpha-glucosidase deficiency<br />

METHODOLOGY: Flurometric Enzyme Assay<br />

REFLEX TEST INFORMATION:<br />

CPT: 82657<br />

[POR] Plasma Total Porphyrins<br />

SPECIMEN REQUIRED: Frozen serum<br />

TUBE OR CONTAINER: Gold or Red<br />

SPECIAL HANDLING: Protect specimen from light<br />

SPECIMEN VOLUME: 3 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 3-8 days<br />

REFERENCE RANGE: 0-15 nmol/L<br />

METHODOLOGY: Scanning Fluorometry<br />

CLINICAL USE: Aid in diagnosis of hereditary coproporphyria,<br />

variegate porphyria<br />

CPT: 84311<br />

[PORDEF] POR GENE-P450 OXIDOREDUCT DEFI<br />

SPECIMEN REQUIRED: Whole blood at room temperature<br />

TUBE OR CONTAINER: Lavender (EDTA)<br />

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 1 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 8-10 weeks<br />

OTHER NAMES: POR Deficiency; Congenital adrenal hyperplasia<br />

with combined P450C17 & P450C21 deficiencies<br />

METHODOLOGY: Polymerase chain reaction (PCR)<br />

CPT: 83891 x 12; 83892 x 4; 83894 x 12; 83898 x 24; 83904 x 24;<br />

83912

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