Cystic Fibrosis Mutation Analysis
Label Mnemonic: CFMUT
Epic Lab Code: LAB2823
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Specimen Instructions:
Sample must arrive in lab by 1500; collect Monday through Friday only; do not collect before a holiday.
Collection Medium:
Pink top tube 6 mL (K2-EDTA)
Alternate Collection Media:
Yellow top tube 8.5 mL (ACD solution A)
Minimum:
Cheek cells/brushings or whole blood:
Adult Minimum: 10-15 mL whole blood from TWO pink top (EDTA) tubes
Children Minimum: 5-8 mL whole blood from pink top (EDTA) tube
Rejection Criteria:
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen.
Delivery Instructions:
Submit specimen to laboratory as soon as possible after collection period is completed.
Turn Around Time:
5-8 days upon receipt at reference laboratory (when cell culture is required add approximately 2 weeks)
Reference Range:
Negative for all mutations analyzed
Comments:
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.
Test Limitations:
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.
Methodology:
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.
CPT Code:
81220