Printable Test Catalog - OU Medicine

[SSADH] SSADH DEFICIENCY (ALDH5A)
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: Succinic Semialdehyde Dehydrogenase Deficiency via
ALDH5A gene sequencing
METHODOLOGY: Polymerase chain reaction (PCR)
CPT: 83891; 83894 x 5; 83898 x 5; 83904 x 6; 83912
[SSULFU] Urine S-Sulfo-Cysteine
SPECIMEN REQUIRED: Frozen urine (random)
TUBE OR CONTAINER: Plastic urine container
SPECIAL HANDLING: Early morning specimen preferred
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 3-6 days
METHODOLOGY: Dip stick for sulfite, and ion exchange
chromatography
CLINICAL USE: Increased in sulfite oxidase deficiency and
molybdenum cofactor deficiency
CPT: 82131
[StAR] LIPOID CAH (StAR) EVALUATION
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA) or Yellow (ACD)
SPECIAL HANDLING: Must be received in laboratory by 1:30 pm,
Monday-Thursday only
SPECIMEN VOLUME: 6 mL
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Monday-Thursday
TURNAROUND TIME: 2-8 weeks
REFERENCE RANGE: No mutation detected
METHODOLOGY: Polymerase Chain Reaction (PCR) and DNA sequencing
CLINICAL USE: Detects mutations in coding sequence of Lipoid
CAH (StAR), including point mutations, small
deletions, insertions and rearrangements
CPT: 83891; 83898 x 7; 83904 x 7; 83909; 83912
[STCBC] STUDY CBC WITH MAN DIFF
[STCD1920] CD19/20
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA)
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 3 mL
TEST AVAILABILITY: Monday-Friday, day shift only
METHODOLOGY: Flow cytometry