Printable Test Catalog - OU Medicine

METHODOLOGY: Polymerase chain reaction (PCR)
CPT: 83891; 83894; 83898 x 10; 83904 x 20; 83909; 83912
[TLCOLIGU] Urine Oligosaccharides
SPECIMEN REQUIRED: Frozen urine (random)
TUBE OR CONTAINER: Plastic urine container
SPECIMEN VOLUME: 25 mL
MINIMUM VOLUME: 10 mL
TEST AVAILABILITY: Daily
METHODOLOGY: Thin Layer Chromatography (TLC)
CPT: 84375
[TMA-TMAO] TRIMETHYLAMINE & TMA N-OXIDE
SPECIMEN REQUIRED: Frozen urine (random)
TUBE OR CONTAINER: Plastic urine container
SPECIAL HANDLING: Collect urine preferably when the odor is
present and patient is on a normal diet
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 1 mL
TEST INCLUDES: Trimethylamine (TMA) and Trimethylamine N-oxide
(TMAO), % TMAO and interpretation
TEST AVAILABILITY: Daily
TURNAROUND TIME: 4-6 days
REFERENCE RANGE: Normal ratio TMA/TMAO = 0.0025 - 0.055
( > 85% TMAO)
Affected ratio: TMA/TMAO > 0.2 (< 20% TMAO)
METHODOLOGY: Tandem mass spectrometry (MS/MS)
CLINICAL USE: Diagnosis of trimethylaminuria
CPT: 83789
[TMEM216] JOUBERT SYNDROME VIA TMEM216
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA) or Yellow (ACD)
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 4-6 weeks
OTHER NAMES: Joubert Syndrome via TMEM216 gene sequencing
METHODOLOGY: Polymerase chain reaction (PCR)
CPT: 83890; 83891; 83894; 83898 x 5; 83904 x 5; 83912
[TMEM67] TMEM67/MKS3 GENE SEQUENCING
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA) or Yellow (ACD)
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 4-6 weeks
OTHER NAMES: Joubert & Meckel-Gruber Syndromes via TMEM67/MKS3
gene sequencing