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Printable Test Catalog - OU Medicine

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

OTHER NAMES: 3-Methylcrotonyl-CoA Carboxylase Deficiency<br />

(MCCC2) Gene Sequencing<br />

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

CPT: 83890; 83891; 83894; 83898 x 19; 83904 x 19; 83912<br />

[MCEE] METHYLAMALONIC ACIDEMIA-MCEE<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 weeks<br />

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

CPT: 83891; 83894; 83898 x 3; 83904 x 6; 83909; 83912<br />

[MCOLN1] MUCOLIPIDOSIS IV (MCOLN1)<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: 1 mL<br />

TEST AVAILABILITY: Daily<br />

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

OTHER NAMES: Mucolipidosis IV via MCOLN1 gene<br />

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

CPT: 83891 x 5; 83892 x 2; 83894 x 5; 83898 x 5; 83904 x 5;<br />

83912<br />

[MCPDNA] MEMBRANE COFACTOR PROTEIN GENE<br />

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

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

SPECIMEN VOLUME: 4 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

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

CPT: 83891; 83894; 83898 x 13; 83904 x 13; 83912<br />

[MCT8] ALLAN-HERNDON-DUDLEY (MCT8)<br />

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

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

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 1 mL<br />

TEST AVAILABILITY: Daily<br />

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

OTHER NAMES: SLC16A2 full gene sequencing, MCT8-Specific<br />

Thyroid Hormone Cell Transport Deficiency;<br />

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

CPT: 83891; 83894; 83898 x 7; 83904 x 14; 83909 x 14; 83912<br />

[MDM] MYOTONIC MUSCULAR DYSTROPHY

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