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Cystic Fibrosis Mutation
Detection by PCR-OLA

Test code: 6262

Method: Polymerase chain reaction (PCR)-oligonucleotide ligation assay (OLA).

Specimen instructions: It is the Health Care Provider’s responsibility to obtain consent from the patient prior to collecting/submitting a sample for CF testing.

Specimen requirements: SurePath™: 0.5 mL (0.25 mL) minimum. ThinPrep™: 1.0 mL (0.5 mL) minimum, ambient temperature.

Collection and transport: SurePath™: Store and ship at ambient temperature up to 28 days. ThinPrep™: Store and ship at ambient temperature up to 3 months/90 days.

Causes for rejection: SurePath™: Less than 0.25 mL and/ or more than 28 days. ThinPrep™: Less than 0.5 mL and/or more than 3 months/90 days.

Specimen stability: SurePath™: Stable for up to 28 days at room temperature. ThinPrep™: Stable for up to 3 month at room temperature.

Reference range: Interpretative report.

TAT: 7 Days.

CPT code: 83891 Isolation or detection of highly purified nucleic acid 83901 Amplification of patient nucleic acid, multiplex, each multiplex reaction 83896x55 Nucleic acid probe, each 83894 Separation by gel electrophoresis 83912 Interpretation and Report.

Clinical significance: This assay is used to determine affected or carrier status of the 33 most common Cystic Fibrosis (CF) mutations and associated polymorphism. It detects >90% of CF mutations in the Northern European caucasian populations. There may be higher or lower detection efficiency for different ethnic groups.

The American College of Obstetricians and Gynecologists (ACOG) now recommends that OB-GYN physicians make DNA screening for CF available to all couples seeking preconception or prenatal care not just those with a personal family history of carrying the CF gene, as previously recommended. ACOG recommends a screening panel of 25 common CF mutations and associated polymorphism (Genetics in Medicine 3:149-154, 2001).

Cystic Fibrosis is one the most common inherited diseases in the United States, affecting one infant out of every 3,000 live births. If both parents are carriers, then their child has a 25% (or one in four) chance of being born with CF. There is a 50% chance that the child will not have CF, but will be a carrier. Finally, there is a 25% chance the child will not be a carrier. Those affected have high levels of sodium and chloride in their sweat. More importantly, a thick, sticky mucous in the lungs cases persistent coughing wheezing and frequent lung infections, including pneumonia.

CF detection is done using a multiplex PCR-multiplex oligonucleotide ligation assay. The PCR OLA assay is followed by the loading of ligation products into one electrophoresis gel lane for separation, detection and data by analysis.

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