Printable Test Catalog - OU Medicine

[EDAR] ECTODERMAL DYSPL (EDAR GENE)
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA) or Buccal swab
SPECIMEN VOLUME: 5 mL
MINIMUM VOLUME: 1 mL
TEST AVAILABILITY: Daily
TURNAROUND TIME: 6-8 weeks
REFERENCE RANGE: No mutation detected
OTHER NAMES: Hypohidrotic Ectodermal Dysplasia (HED)
METHODOLOGY: Polymerase Chain Reaction (PCR)
CLINICAL USE: Confirmation of clinical diagnosis
CPT: 83891 x 12; 83892 x 2; 83894 x 12; 83898 x 12; 83904 x 22;
83912
[EDMD] EMERY-DREIFUSS MUSCUL DYST DNA
SPECIMEN REQUIRED: Whole blood at room temperature
TUBE OR CONTAINER: Lavender (EDTA)
SPECIMEN VOLUME: 14 mL (2 tubes)
MINIMUM VOLUME: 3 mL
TEST AVAILABILITY: Daily
REFERENCE RANGE: No mutation detected
METHODOLOGY: Fluorescent DNA sequencing
CLINICAL USE: Detect mutations in the LMNA gene
CPT: 83890; 83898 x 11; 83904 x 11; 83912
[EDS4] EDS TYPE 4 (COL3A1)
SPECIMEN REQUIRED: Whole blood or fibroblasts at room
temperature
TUBE OR CONTAINER: Lavender (EDTA) or flasks
SPECIMEN VOLUME: 10 mL
MINIMUM VOLUME: 6 mL
TEST AVAILABILITY: Daily
METHODOLOGY: Polymerase Chain Reaction (PCR)
CPT: 83890; 83898 x 25; 83904 x 32; 83912
[EDS6] EHLERS DANLOS (EDS) TYPE 6
SPECIMEN REQUIRED: Whole blood or fibroblasts at room
temperature
TUBE OR CONTAINER: Lavender (EDTA) or flasks
SPECIMEN VOLUME: 10 mL
MINIMUM VOLUME: 6 mL
TEST AVAILABILITY: Daily
OTHER NAMES: EDS Type 6; PLOD1 gene test
METHODOLOGY: Polymerase Chain Reaction (PCR)
CPT: 83890; 83894 x 38; 83898 x 38; 83904 x 45; 83912
[EDS6UR] EHLERS-DANLOS SYND TYPE VI
SPECIMEN REQUIRED: Frozen urine (First-morning void)
TUBE OR CONTAINER: Urine transport container