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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: Monday-Thursday<br />

TURNAR<strong>OU</strong>ND TIME: 2-8 weeks<br />

REFERENCE RANGE: No mutation detected<br />

METHODOLOGY: Polymerase Chain Reaction (PCR), DNA sequencing of<br />

entire protein coding region of gene<br />

CLINICAL USE: Detects mutation in the coding sequences of the<br />

melanocortin 4 receptor gene<br />

CPT: 83891, 83898 x 3, 83904 x 3, 83909 x 3; 83912<br />

[MCAD] MED CHAIN ACYL-COENZYME ADEHY<br />

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

TUBE OR CONTAINER: Lavender (EDTA) or Dark green (heparin)<br />

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 3 mL<br />

TEST AVAILABILITY: Monday-Friday<br />

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

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

CPT: 83890; 83920; 83901 x 10; 83904; 83909 x 2; 83912<br />

[MCARDLE] GSD TYPE 5 (MCARDLE DISEASE)<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: Monday-Thursday<br />

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

OTHER NAMES: PYGM Gene Sequencing<br />

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

CPT: 83890; 83891; 83894; 83898 x 2; 83904 x 2; 83912 (TIER 1)<br />

[MCCC1] 3-METHYLCROT-CoA CARBOXYLASE<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: 3-Methylcrotonyl-CoA Carboxylase Deficiency<br />

(MCCC1) Gene Sequencing<br />

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

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

[MCCC2] 3-METHYLCROT-CoA CARBOXYLASE<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

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