Printable Test Catalog - OU Medicine

SPECIMEN REQUIRED: Cultured fibroblasts at room temperature
TUBE OR CONTAINER: T-75 or T-25 flasks
SPECIMEN VOLUME: 1 T-75 flasks or 2 T-25 flask
TEST AVAILABILITY: Daily
TURNAROUND TIME: 2-3 months
REFERENCE RANGE: Negative
METHODOLOGY: Radioloabeled Lipid Extraction using Thin Layer
Chromatography (TLC)
CLINICAL USE: Detection of a unique form of type C Niemann-Pick
disease
CPT: 82658; 88233; 88240
[NIEMPICK] NIEMANN-PICK 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: 4-5 weeks
METHODOLOGY: Polymerase Chain Reaction
[NIPA1] HSP-NIPA1 GENE (SPG6)
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA) or Yellow (ACD)
SPECIAL HANDLING: Specimen must be received in laboratory by
1:30 pm Monday-Thursday only
Ship within 24 hours of collection
SPECIMEN VOLUME: 10 mL
MINIMUM VOLUME: 3 mL
TEST AVAILABILITY: Monday-Thursday
TURNAROUND TIME: 4-6 weeks
REFERENCE RANGE: No mutation detected
OTHER NAMES: Autosomal Dominant Hereditary Spastic Paraplegia
METHODOLOGY: Polymerase Chain Reaction (PCR) and DNA sequencing
CLINICAL USE: Detects mutations in the NIPA1 gene
CPT: 83891; 83898 x 6; 83904 x 6; 83909; 83912
[NIPBL] NIPBL-CORNELIA de LANGE SYNDR
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA)
SPECIMEN VOLUME: 10 mL
MINIMUM VOLUME: 3 mL
TEST AVAILABILITY: Monday-Thursday only
TURNAROUND TIME: 4 weeks
METHODOLOGY: Polymerase Chain Reaction (PCR)
CPT: 83891; 83898 x 9; 83904 x 9; 83912 (SEQUENCING)
CPT: 83891; 83900; 83912 (DUPLICATION/DELETION)
[NKFUNC] Natural Killer Cell Functional Assy
SPECIMEN REQUIRED: Whole blood at room temperature