FRAGILE X (FMRI), DIAGNOSTIC

Specimen Required
Draw blood in a lavender EDTA tube. Send 5.0 mL whole blood (1.5 mL minimum) room temperature.

Alternate Specimen
Whole Blood: ACD A or B

Rejection Criteria
Hemolyzed or frozen specimens

Methodology
PCR/Capillary Electrophoresis. Methylation analysis is performed to distinguish between permutation and full mutation alleles.

Stability
Room Temperature: 3 days; Refrigerated: 7 days; Frozen: Unacceptable

Reference Range
By report

Performed
Sunday-Saturday

Turnaround Time8-16 days
Test CodeFXDNA
CPT-4 Code (s)
81243, plus if reflexed add 81244 at an additional charge
(ZB2O1)
LOINC Codes
Interpretation   36913-2  
Specimen   66746-9  
Allele 1   45321-7  
Allele 2   45322-5  
Methylation Pattern   41107-4  

Warde
Medical
Laboratory