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Printable Test Catalog - OU Medicine

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TEST AVAILABILITY: Daily<br />

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

OTHER NAMES: Mitochondrial DNA Mutations<br />

METHODOLOGY: Real-time ARMS quantitative PCR<br />

CPT: 83891; 83900; 83901 x 28; 83909 x 2; 83912<br />

[MTDNADD] mtDNA DUPLICATION/DELETION<br />

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

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

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST INCLUDES: Mitochondrial DNA deletion/duplication<br />

TEST AVAILABILITY: Daily<br />

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

OTHER NAMES: Mitochondrial DNA Mutations<br />

METHODOLOGY: Array CGH<br />

CPT: 83891; 83900; 88271 x 9; 83912<br />

[MTHFCSF] CSF 5-Methyltetrahydrofolate<br />

SPECIMEN REQUIRED: Frozen CSF<br />

TUBE OR CONTAINER: Special collection containers; contact Lab<br />

SPECIAL HANDLING: Must be in Lab Monday-Thursday by 2:00 pm<br />

SPECIMEN VOLUME: 0.5 mL (each tube)<br />

TEST AVAILABILITY: Monday-Thursday only<br />

TURNAR<strong>OU</strong>ND TIME: 1 week<br />

METHODOLOGY: HPLC with electrochemical detection<br />

CPT: 82491<br />

[MTHFR] MTHFR<br />

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

refrigerated<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: 5-7 days<br />

OTHER NAMES: Hyperhomocysteinemia, C677T and A1298C Mutations;<br />

Methylenetetrahydrofolate Reductase<br />

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

restriction enzyme digestion<br />

CLINICAL USE: Follow-up evaluation in individuals with<br />

hyperhomocysteinemia; evaluation of patients with<br />

venous thrombosis<br />

CPT: 83890; 83898 x 2; 83904 x 2; 83912<br />

[MTTS1] HEREDITARY HEARING LOSS-MTTS-1<br />

SPECIMEN REQUIRED: Room temperature whole blood<br />

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

SPECIMEN VOLUME: 5 mL

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