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Printable Test Catalog - OU Medicine

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TURNAR<strong>OU</strong>ND TIME: 5-8 days<br />

REFERENCE RANGE: < 5.0 ug/mL<br />

OTHER NAMES: Lasix<br />

METHODOLOGY: High Performance Liquid Chromatography (HPLC) with<br />

Fluorescence Detection<br />

CLINICAL USE: Therapeutic drug monitoring<br />

CPT: 80299<br />

[FXTASDNA] FRAGILE X-ASSOC TREMOR/ATAXIA<br />

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

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

SPECIMEN VOLUME: 20 mL<br />

MINIMUM VOLUME: 10 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 14-21 days<br />

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

CPT: 83891; 83892 x 2; 83894; 83896; 83897; 83898; 83909; 83912<br />

[FZD4] FAM VITREORETINOPATHY (FZD4)<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: 6 weeks<br />

OTHER NAMES: Familial Exudative Vitreoretinopathy (FEVR) via<br />

FZD4 gene<br />

METHODOLOGY: Bi-directional sequence analysis<br />

CPT: 83891 x 6; 83892 x 2; 83894 x 6; 83898 x 12; 83904 x 12;<br />

83912<br />

[G6PC3] SCN/DURSAN SYNDROME-G6PC3 GENE<br />

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

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

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 3-6 weeks<br />

REFERENCE RANGE: No mutation detected<br />

OTHER NAMES: Autosomal Recessive Severe Congenital Neutropenia/<br />

Dursun Syndrome via G6PC3 Gene Sequencing<br />

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

CPT: 83890; 83891; 83894; 83898 x 7; 83904 x 7; 83912<br />

[G6PDDNA] G6PD DNA MUTATION<br />

SPECIMEN REQUIRED: Whole blood or filter paper card at room<br />

temperature<br />

TUBE OR CONTAINER: Lavender (EDTA) or Filter paper card<br />

SPECIMEN VOLUME: 3 mL<br />

MINIMUM VOLUME: 2 mL

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