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Printable Test Catalog - OU Medicine

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SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 5 mL<br />

TEST AVAILABILITY: Daily<br />

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

REFERENCE RANGE: No mutation detected<br />

METHODOLOGY: DNA Sequencing<br />

[SCO1] SCO1 SEQUENCING<br />

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

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

SPECIMEN VOLUME: 14 mL<br />

MINIMUM VOLUME: 6 mL<br />

TEST AVAILABILITY: Daily<br />

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

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

CLINICAL USE: Confirm diagnosis of affected individuals with<br />

complex IV deficiency<br />

CPT: 83891; 83894 x 2; 83898 x 6; 83904 x 12; 83912<br />

[SCO2] SCO2 SEQUENCING<br />

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

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

SPECIMEN VOLUME: 14 mL<br />

MINIMUM VOLUME: 6 mL<br />

TEST AVAILABILITY: Daily<br />

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

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

CLINICAL USE: Confirm diagnosis of affected individuals with<br />

complex IV deficiency<br />

CPT: 83891; 83894 x 2; 83898 x 2; 83904 x 4; 83912<br />

[SDHAF1] SDHAF1-RELATED SUCCINATE CoQ<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: 3 weeks<br />

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

CPT: 83891; 83894; 83898 x 2; 83904 x 4; 83909; 83912<br />

[SDHBSEQ] SUCCINATE DEHYDROGENASE B SEQ<br />

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

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

SPECIMEN VOLUME: 4 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 6-10 days<br />

OTHER NAMES: Succinate Dehydrogenase (SDH) subunit B Gene<br />

analysis

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