FMR1 Gene Analysis Characterization of Alleles with Interpretation
Label Mnemonic: FX
Epic Lab Code: LAB2460
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
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
Turn Around 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:
81243 (PCR only)
81244 (PCR & Southern Blot)