CYSTIC FIBROSIS SCREEN

Test Documentation
Specimen Required
Draw blood in lavender tube. Send 3.0 mL whole blood (1.0 mL minimum) at room temperature.

Alternate Specimen
Whole blood: ACD

Rejection Criteria
Serum, plasma, heparinized whole blood, tissue specimens

Methodology
Polymerase chain reaction (PCR) amplification and direct mutation analysis using the eSensor system from Genmark. This procedure tests for the presence of 23 mutations reccommended by the American College of Medical Genetics; delta F508, delta I507, G542X, G551D, W1282X, N1303K, R553X, 621+1G>T, R117H, 1717-1G>A, A455E, R560T, R1162X, G85E, R334W, R347P, 711+1G>T, 1898+1G>A, 2184delA, 3849+10kbC>T, 2789+5G>A, 3659delC, and 3120+1G>A. In addition, the IVS-8/poly-T region is analyzed for the 5/7/9T variant when R117H mutation is detected.

Stability
Room Temperature: 5 days; Refrigerated: Unacceptable; Frozen: Unacceptable

Reference Range
Normal Genotype

Performed
Monday, Wednesday, Friday

Turnaround Time5 days
Test CodeCFMP
CPT-4 Code (s)
81220
LOINC Codes
21654-9

Warde
Medical
Laboratory