Printable Test Catalog - OU Medicine

TURNAROUND TIME: 2-3 days
REFERENCE RANGE:
CPT: 86850 x 5; 86860; 86870; 83880 x 7; 83900; 83901
[DBA] DIAMOND-BLACKFAN ANEMIA
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA)
SPECIAL HANDLING: Ship on cool pack in hot weather
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 1 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 6-8 weeks
OTHER NAMES: RPS19 Gene Analysis; Aase-Smith Syndrome II; Pure
hereditary red cell aplasia
METHODOLOGY: Bi-directional sequencing
CPT: 83891 x 8; 83892 x 2, 83894 x 8; 83898 x 8; 83904 x 8;
83912
[DBH] DOPAMINE B-HYDROXYLASE DEFIC
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA)
SPECIMEN VOLUME: 10 mL
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Daily
OTHER NAMES: Dopamine Beta-Hydroxylase Deficiency (DBH)
METHODOLOGY: Polymerase chain reaction (PCR)
CPT: 83891; 83894 x 3; 83898 x 5; 83904 x 3; 83912
[DCM-B] DILATED CARDIOMYOPATHY-B (DCM)
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA)
SPECIAL HANDLING: Monday through Thursday only; must be shipped
same day as collected; must arrive in lab by
2:00 pm on day collected
SPECIMEN VOLUME: 7 mL
MINIMUM VOLUME: 3 mL
TEST AVAILABILITY: Monday-Thursday only
TURNAROUND TIME: 4 weeks
METHODOLOGY: Polymerase Chain Reaction (PCR)
CPT: 83891; 83894; 83898 x 49; 83904 x 49; 83909; 83912
[DCX] DCX (XLIS) SEQUENCING
SPECIMEN REQUIRED: Whole blood at room temperature;
TUBE OR CONTAINER: Lavender (EDTA)
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 2-4 weeks
OTHER NAMES: Classic Lissencephaly; X-linked lissencephaly
METHODOLOGY: Bi-directional sequence analysis