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Printable Test Catalog - OU Medicine

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REFERENCE RANGE: METHODOLOGY: Spectrophotometric, Kinetic<br />

CPT: 82760<br />

[GALACU] Urine Galactitol<br />

SPECIMEN REQUIRED: Frozen urine (random)<br />

TUBE OR CONTAINER: Plastic urine container<br />

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

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

REFERENCE RANGE: Values are expressed as mmol/mol creatinine<br />

Normal Galactosemia<br />

1-6 years: 0-45.3 (n=34) 194-620 (n=38)<br />

>6 years: 0-18.4 (n=30) 98-282 (n=32)<br />

METHODOLOGY: Gas chromatography/Mass Spectrometry (GCMS)<br />

CLINICAL USE: Diagnosis and monitoring of galactosemia<br />

CPT: 84378<br />

[GALGENE] GALACTOSEMIA GENE ANALYSIS<br />

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

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

SPECIAL HANDLING: Specimen must arrive at performing lab within<br />

96 hours of collection<br />

SPECIMEN VOLUME: 3 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

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

METHODOLOGY: Real-time Polymerase Chain Reaction (PCR)<br />

CLINICAL USE: Confirmation of galactosemia; Identify<br />

galactosemia carriers; document germ line<br />

mutations; follow-up testing for borderline GALT<br />

enzyme tests<br />

CPT: 83890; 83896 x 6; 83898 x 6; 83912<br />

[GALOP] GALOP AUTOANTIBODY<br />

SPECIMEN REQUIRED: Refrigerated serum<br />

TUBE OR CONTAINER: Red or Gold<br />

SPECIMEN VOLUME: 2 mL<br />

MINIMUM VOLUME: 1 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 8-12 days<br />

OTHER NAMES: Gait associated late onset polyneuropathy (GALOP)<br />

METHODOLOGY: Enzyme-linked immunosorbent assay (ELISA)<br />

CPT: 83520 x 2<br />

[GALPUT] GALACTOSE-1-PHOS PHENOTYPING<br />

SPECIMEN REQUIRED: Refrigerated whole blood<br />

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

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 2 mL

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