Cystic Fibrosis Mutation Panel by PCR

CF

Test Synonym:

CF 32 mutation analysis panel - carrier and diagnostic testing

CPT Code:

83891-8A – Molecular isolation
83894-8A – Gel electrophoresis
83901-8A – Amplification each multiplex reaction
83896-8A x32 – Nucleic acid probes
83912-8A – Interpretation and report

Turnaround Time:

7-10 days

Methodology:

Polymerase Chain Reaction (PCR) / Oligonucleotide Ligation Asay

Specimen Requirements:

5.0ml (min. 3.0ml) whole blood EDTA preferred, ACD accepted

2 swabs of buccal cells in transport medium (provided)

2.0ml (min. 1.0ml) ThinPrep® PAP solution or SurePath™ Test Pack

Causes for Rejection:

Insufficient DNA material;, frozen; clotted or severely hemolyzed whole blood specimen

Specimen Stability:

Blood stable at 18-25°C for 24 hours or 2-8°C for 4 days;

Buccal swab in transport medium and ThinPrep PAP solution or SurePath Test Pack stable at 18-25°C for 21 days

Storage and Handling:

Ship blood specimen at ambient temperature; if shipment is delayed, store blood at 2–8°C and ship with an ice pack (do not allow the sample to be in direct contact with the ice pack)

Ship buccal swabs in transport medium at ambient

Ship ThinPrep solution or SurePath Test Pack at ambient

Reference Range:

See report

Indication:

Cystic fibrosis (CF) is an autosomal recessive disease characterized by pulmonary and gastrointestinal manifestations of varying severity. Inherited mutations in the cystic fibrosis transmembrane regulator (CFTR) gene causes interference with chloride ion transport, resulting in decreased secretion and increased viscosity of fluids. These thick secretions lead to duct obstruction and plugging with resultant organ dysfunction or failure. Cystic fibrosis affects 1:2,500 Caucasians, 1:8,400 Hispanics, 1:14,400 African Americans and 1:32,400 Asian Americans. A 25% (1:4) chance exists for inheriting cystic fibrosis when both parents carry a CF mutation. When both parents are carriers, there is a 50%(1:2) chance that the offspring will also be a carrier. More than 1300 mutations in the CF gene have been reported (http://genet.sickkids.on.ca). Testing for the most frequent mutations using the American College of Medical Genetics (ACMG) recommended core mutation panel can be used to identify CF carriers. The core mutation panel has a CF carrier detection rate of 97% for Ashkenazi Jewish individuals, 80% for European Caucasians, 57% for Hispanic and 69% for African Americans. Mutation ΔF508 accounts for 70% of the CF mutations found in northern European Caucasians and 30% of mutations found in Ashkenazi Jewish individuals. The CF Mutation panel offered by Molecular Pathology Laboratory Network will detect 32 mutations and one polymorphism in the CFTR gene, including the 25 core mutations recommended by the ACMG. The remaining mutations are rare and account for only a small percentage of CF cases.

References:

ACOG and ACMG (2001). Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Washington, DC: ACOG
Grody et al. (2001). Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3(2):14
Richards et al. (2002). Standards and Guidelines for CFTR Mutation Testing. Genet Med 4(5):379

*PCR is performed under license agreement with Hoffman-LaRoche, Inc.