Fragile X, DNA Testing
Order Code: FX
Epic Lab Code: LAB2460
Order Form: A-1a Molecular Pathology/Diagnostics or Epic Req
Molecular Pathology
6004 BT GH
384-9568
Specimen:
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Adult minimum: 3 mL whole blood in lavender top tube (EDTA) Children minimum: 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature up to 24 hours. Refrigerate overnight, weekends and holidays.
Testing Schedule:
Weekly
Analytic Time:
21 days
Reference Range:
Normal: < or = to 44 CGG repeats Indeterminate: 45-55 CGG repeats Pre mutation (carrier): 56-199 CGG repeats Full mutation (affected): > or = to 200 CGG repeats
Methodology:
Polymerase Chain Reaction (PCR) and Southern Blot
CPT Code:
83890, 83892 (x2), 83894 (x2), 83896, 83897, 83898, 83912