Whole Blood

Sample must arrive in lab by 1500; collect Monday through Friday only; do not collect before a holiday.

DO NOT Centrifuge.

Yellow top tube 8.5 mL (ACD solution A)

Cheek cells/brushings or whole blood:
4 mL whole blood from lavender top (EDTA) tube

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen.

Deliver to laboratory immediately after collection.

7-10 days upon receipt at reference laboratory (when cell culture is required add approximately 2 weeks)

Negative for all mutations analyzed

Complete the Molecular Genetics Test Requisition with patient ethnicity and clinical indication.

False positive or false negative results may occur for reasons that include: genetic variants, technical handling, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships.

Cystic fibrosis (CF) occurs at increased frequency in Caucasians and individuals of Ashkenazi Jewish descent, but can occur in any ethnic group. It is a disorder of mucus production, primarily affecting the pulmonary, gastrointestinal and reproductive systems. Although there is some variability of clinical expression, most individuals with CF require lifelong medical care and experience reduced life expectancy.

CFplus tests for 97 mutations.

DNA is isolated from the sample and tested for the 97 CF mutations listed. Regions of the CFTR gene are amplified enzymatically and subjected to a solution-phase multiplex allele-specific primer extension with subsequent hybridization to a bead array and fluorescence detection. Some mutations are then specifically identified by bidirectional dideoxysequencing.

Discriminates between p.F508del and the following polymorphisms: F508C, I506V, and I507V p.F508C, p.I506V, and p.I507V.

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