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Printable Test Catalog - OU Medicine

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SPECIAL HANDLING: Collect immediately prior to next dose<br />

Do NOT collect in gel barrier tube<br />

SPECIMEN VOLUME: 1 mL<br />

MINIMUM VOLUME: 0.3 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 48 hours<br />

REFERENCE RANGE: Therapeutic: 50-150 ng/mL<br />

Potential toxicity: >500 ng/mL<br />

OTHER NAMES: Aventyl; Pamelor<br />

METHODOLOGY: Liquid chromatography/tandem mass spectrometry<br />

(LC/MS-MS)<br />

CLINICAL USE: Monitor therapeutic drug level and assess toxicity<br />

CPT: 80182<br />

[NPHP1] NPHP1 SEQUENCING<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: Joubert Syndrome and Nephronophthisis via NPHP1<br />

Gene sequencing<br />

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

CPT: 83890; 83891; 83894; 83898 x 20; 83904 x 20; 83912<br />

[NPHP1DEL] NPHP1 DELETION<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: Homozygous Deletion testing for Joubert Syndrome<br />

and Nephronophthisis<br />

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

CPT: 83890; 83891; 83894; 83898 x 2; 83912<br />

[NPHP2] NEPHRONOPHTHISIS VIA NPHP2<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: Nephronophthisis via INVS/NPHP2 Gene Sequencing<br />

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

CPT: 83890; 83891; 83894; 83898 x 17; 83904 x 17; 83912<br />

[NPHS2] NPHS2 SEQUENCING

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