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Printable Test Catalog - OU Medicine

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

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 3-4 weeks<br />

REFERENCE RANGE: No mutations detected<br />

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

CPT: 83891; 83898 x 10; 83904 x 10; 83909 x 10; 83912<br />

[SLC2A10] ARTERIAL TORTUOSITY-SLC2A10<br />

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

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

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 5 mL<br />

TEST AVAILABILITY: Daily<br />

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

CPT: 83891; 83898 x 6; 83904 x 8; 83912<br />

[SLC2A2] FANCONI-BICKEL (SLC2A2)<br />

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

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

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 4-5 weeks<br />

OTHER NAMES: Fanconi-Bickel Syndrome via SLC2A2 gene<br />

sequencing; Glycogen Storage Disease, Type XI<br />

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

CPT: 83890; 83891; 83894; 83898 x 10; 83904 x 10; 83912<br />

[SLC9A6] X-LINKED ANGELMAN-LIKE (SLC9A6<br />

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

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

SPECIMEN VOLUME: 14 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 4 weeks<br />

OTHER NAMES: X-Linked Angelman-Like Syndrome<br />

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

CPT: 83891; 83894; 83898 x 19; 83904 x 38; 83909 x 38; 83912<br />

[SLE] SLE PROFILE<br />

SPECIMEN REQUIRED: Refrigerated serum<br />

TUBE OR CONTAINER: Red or Gold<br />

SPECIMEN VOLUME: 2 mL<br />

MINIMUM VOLUME: 1 mL<br />

TEST INCLUDES: ANA on HEp-2; SJ-A/Ro Antibody<br />

TEST AVAILABILITY: Monday-Friday<br />

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

OTHER NAMES: Systemic Lupus Erythematosus (SLE)

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