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Test Code CFPB Cystic Fibrosis, Blood

Performing Laboratory

NorDx

Reference Values

Negative (reported as negative or positive with zygosity) 

Methodology

The Third Wave CF InPlex ASR assay utilizes multiplex PCR amplification and Invader technology signal amplification and FRET detection. This assay simultaneously screens for 40 genetic mutations plus 6 polymorphisms, including the panel recommended by the ACMG and the 17 most common pan-ethnic mutations. These include: S549R A>C, Y122X, Y1092X C>A, R1162X, R347H, 2184delA, 2183AA>G, 3876delA, G85E, S549R T>G, R334W, R553X, 621+1G>T, S549N, D1152H, 394delTT, G542X, R347P, R117H, G551D, 1078delT, deltaF508, F508C, deltaI507, 3849+4A>G, R560T, W1282X, 1717-1G>A, A455E, 3849+10kbC>T, 3659delC, V520F, I148T, 2789+5G>A, E60X, N1303K, 1898+1G>A, 3120+1G>A, Q493X, 3905insT, 711+1G>T, D1270N, Y1092X C>G, and IVS8-5T/7T/9T.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, INC.) 

Specimen Requirements

Specimen must arrive to testing lab within five days of draw.

 

Draw blood in a lavender-top (EDTA) tube. Send 3 mL (minimum volume: 0.5 mL) of EDTA whole blood refrigerated.

Note: A completed and signed NorDx “Cystic Fibrosis Informed Consent” form is required.

 

Note:  Label specimen with patient’s name (first and last), date of birth, date and time of draw, and phlebotomist’s initials.

 

 

 

 

Day(s) Test Set Up

Monday

Test Classification and CPT Coding

81220

Additional Information

Useful for confirmation of clinical diagnosis of Cystic Fibrosis (CF), as carrier testing for individuals who have a family history of CF, in prenatal diagnosis in pregnancies at risk for CF, and as a risk refinement via carrier screening for individuals in the general population.

Cystic Fibrosis genotyping and carrier screening is used to indentify the common mutations and polymorphisms present in the CFTR gene. This panel includes 46 mutations and polymorphisms, including the 23 recommended by the ACMG and ACOG.

Note: 1. This test is ordered in conjunction with a pathology consultation. The pathology professional component will be billed separately by the consulting pathologist.

2. This test was developed and its performance characteristics determined by NorDx. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not required. The diagnostic utility for this test has been validated by NorDx. This test is used for clinical purposes, and should not be regarded as investigational or for research use only.