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Printable Test Catalog - OU Medicine

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SPECIMEN VOLUME: 2 mL<br />

MINIMUM VOLUME: 1 mL<br />

TEST AVAILABILITY: Daily<br />

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

CPT: 83520<br />

[TSC1DEL] TSC1 DNA DELETION<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 Monday -<br />

Thursday only; Ship to performing lab same<br />

day as received<br />

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 5 mL<br />

TEST AVAILABILITY: Monday-Thursday<br />

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

REFERENCE RANGE: No deletions detected<br />

METHODOLOGY: Multiplex-Ligation Probe Amplification (MLPA)<br />

CLINICAL USE: Detects exonic deletions of the TSC1 gene<br />

CPT: 83891; 83900; 83901 x 35; 83909; 83914; 83912<br />

[TSC1DNA] TSC1 DNA SEQUENCING<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 Monday -<br />

Thursday only; Ship to performing lab same<br />

day as received<br />

SPECIMEN VOLUME: 20 mL<br />

MINIMUM VOLUME: 10 mL<br />

TEST AVAILABILITY: Monday-Thursday<br />

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

REFERENCE RANGE: No sequence variation detected<br />

METHODOLOGY: Polyermase Chain Reaction (PCR) and DNA sequencing<br />

CLINICAL USE: Detects sequence variations in TSC1 genes<br />

CPT: 83891; 83898 x 22; 83904 x 22; 83909; 83912<br />

[TSC2DEL] TSC2 DNA DELETION<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 Monday -<br />

Thursday only; Ship to performing lab same<br />

day as received<br />

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 5 mL<br />

TEST AVAILABILITY: Monday-Thursday<br />

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

REFERENCE RANGE: No deletions detected<br />

METHODOLOGY: Dosage analysis of all exons in the TSC2 gene<br />

CLINICAL USE: Detects exonic deletions of the TSC2 gene<br />

CPT: 83891; 83900; 83901 x 41; 83909; 83914; 83912

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