Test Code LAB738 FMR1 Chromosome Analysis, Fragile X DNA
Additional Codes
SQ: FRAIOW
UIDL: FX
Collection
Patient Preparation:
- Standard blood collection procedure.
Specimen Type:
- Whole blood Pink (K2-EDTA) 6mL Tube
Minimum Volume:
- Adult: 3mL whole blood
- Children: 2mL whole blood
Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing.
Reasons for Rejection:
- Specimen does not meet collection, storage, or transport requirements.
Stability
- Ambient: 24 hours.
- Refrigerated: 21 Days.
- Frozen: 6 months.
Reference Range
- Normal: ≤ to 44 CGG repeats
- Indeterminate: 45-55 CGG repeats
- Pre mutation (carrier): 56-199 CGG repeats
- Full mutation (affected): ≥ to 200 CGG repeats
Method Name
Polymerase Chain Reaction (PCR) and Southern Blot
Performing Laboratory
University of Iowa Diagnostic Laboratory Iowa City, Iowa
Day(s) Performed
- Weekly
Analytical Time:
- 21 Days
CPT Codes
81243 (PCR only)
81244 (PCR & Southern Blot)