Printable Test Catalog - OU Medicine

REFERENCE RANGE: < 20
METHODOLOGY: Enzyme-linked immunosorbent assay (ELISA)
CPT: 83520 x 2
[GD1BP] GD1B ANTIBODY PANEL
SPECIMEN REQUIRED: Frozen serum
TUBE OR CONTAINER: Red or Gold
SPECIMEN VOLUME: 1 mL
MINIMUM VOLUME: 0.3 mL
TEST INCLUDES: IgG and IgM
TEST AVAILABILITY: Daily
TURNAROUND TIME: 3-8 days
METHODOLOGY: Enzyme-linked immunosorbent assay (ELISA)
CPT: 83520 x 2
[GDAP1] CMT TYPE 4A VIA GDAP1 GENE
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA)
SPECIAL HANDLING: Specimen must arrive in laboratory by 1:30
pm, Monday-Thursday only
Ship same day as collected
SPECIMEN VOLUME: 10 mL
MINIMUM VOLUME: 5 mL
TEST AVAILABILITY: Monday - Thursday
TURNAROUND TIME: 2-3 weeks
REFERENCE RANGE: No sequence variation detected
OTHER NAMES: Charcot-Marie-Tooth Disease, Type 4A
METHODOLOGY: Polymerase Chain Reaction (PCR) and DNA sequencing
CLINICAL USE: Detects sequence variations in the GDAP1 gene
CPT: 83891; 83898 x 6; 83904 x 6; 83909 x 6; 83912
[GDF6] KLIPPEL-FEIL SYND (GDF6 GENE)
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA)
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 1 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 4-6 weeks
METHODOLOGY: Polymerase chain reaction (PCR)
CPT: 83890; 83891; 83894; 83898 x 4; 83904 x 4; 83912
[GENOME] WHOLE GENOME SEQUENCING
SPECIMEN REQUIRED: Whole blood at room temperature; Frozen
skeletal muscle (preferred) or tissue
TUBE OR CONTAINER: Lavender (EDTA) or sterile container
SPECIMEN VOLUME: 6 mL or 50 mg muscle or tissue
MINIMUM VOLUME: 2 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 6 weeks
METHODOLOGY: Polymerase chain reaction (PCR)