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Printable Test Catalog - OU Medicine

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CPT: 83891; 83892 x 2; 83894 x 2 ;83898; 83912<br />

[CC2D2A] J<strong>OU</strong>BERT/MECKEL-GRUBER (CC2D2A)<br />

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

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

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

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

OTHER NAMES: Joubert and Meckel-Gruber Syndromes via CC2D2A<br />

gene sequencing<br />

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

CPT: 83890; 83891; 83894; 83898 x 30; 83904 x 30; 83912<br />

[CCD] CLEIDOCRANIAL DYSPLASIA<br />

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

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

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 4 mL<br />

TEST AVAILABILITY: Daily<br />

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

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

CPT: 83890; 83894 x 8; 83898 x 8; 83904 x 16; 83912<br />

[CCHS] CONG CENTRAL HYPOVENTILATION<br />

SPECIMEN REQUIRED: Room temperature whole blood<br />

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

SPECIAL HANDLING: Ship M-Thurs only; refrigerate on weekend<br />

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 2-3 weeks<br />

OTHER NAMES: PHOX2B gene mutations<br />

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

CPT: 83891; 83894 x 5; 83898 x 4; 83904 x 8; 83909 x 8; 83912<br />

[CCP] Cyclic Citrullinated Peptide IgG Ab<br />

SPECIMEN REQUIRED: Refrigerated serum<br />

TUBE OR CONTAINER: Red or Gold<br />

SPECIMEN VOLUME: 1 mL<br />

MINIMUM VOLUME: 0.5 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 3-7 days<br />

REFERENCE RANGE: Negative<br />

METHODOLOGY: Enzyme-linked immunosorbent assay (ELISA)<br />

CLINICAL USE: Aids in the diagnosis of rheumatoid arthritis when<br />

considered in conjunction with other laboratory<br />

and clinical findings<br />

CPT: 86200

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