FMR1 Gene Analysis Characterization of Alleles with Interpretation

Label Mnemonic:	FX
Epic code:	LAB2460
Downtime form:	Doctor/Provider Orders - Pathology Molecular

Molecular Pathology
6240 RCP
384-9568

Specimen(s):

Whole Blood

Collection Medium:

Pink top tube 6 mL (K2-EDTA)

Minimum:

Adult minimum: 3 mL whole blood in pink top tube (EDTA)
Children minimum: 2 mL whole blood in pink 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)