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Printable Test Catalog - OU Medicine

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TUBE OR CONTAINER: Lavender (EDTA) or T25 flasks<br />

SPECIMEN VOLUME: 5 mL or 2 flasks<br />

MINIMUM VOLUME: 2 mL or 1 flask<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 4-6 weeks<br />

REFERENCE RANGE: No mutation detected<br />

OTHER NAMES: Marfan Syndrome type 2<br />

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

CPT: 83891; 83898 x 16; 83904 x 18; 83912<br />

[TGFBR2] TGFBR2 DNA SEQUENCING<br />

SPECIMEN REQUIRED: Whole blood 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: 2-4 weeks<br />

REFERENCE RANGE: No mutation detected<br />

OTHER NAMES: Loeys-Dietz Syndrome<br />

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

CPT: 83890; 83891; 83894; 83898 x 11; 83904 x 11; 83912<br />

[TGIF1] HOLOPROSENCEPHALY-4 VIA TGIF1<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 />

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

CPT: 83890; 83891; 83894; 83898 x 3; 83904 x 3; 83912<br />

[TGM1] TGM1-CONG REC ICHTHYOSIS (CRI)<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: 8-10 weeks<br />

OTHER NAMES: TGM1 Gene analysis in Congenital Recessive<br />

Ichthyosis (CRI)<br />

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

CPT: 83891 x 15; 83892 x 2; 83894 x 15; 83898 x 15; 83904 x 25;<br />

83912<br />

[TH] TYROSINE HYDROXYLASE<br />

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

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

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 2 mL

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