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Prenatal Cystic Fibrosis Testing Evaluation by PCR

CF AF

Test Synonym:

CF 32 mutation analysis panel - prenatal

CPT Code:

88235-8A – Culture initiation
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:

14 days

Methodology:

Polymerase Chain Reaction (PCR) / Oligonucleotide Ligation Assay

Specimen Requirements:

  • 20-30ml amniotic fluid in 2-3 sterile tubes, analysis can be attempted on smaller volumes
  • 5ml maternal blood sample in EDTA and documentation of maternal and paternal CF mutations

    Causes for Rejection:

    Specimen exposed to extreme temperature; insufficient number of cells;, specimen exposed to fixative; specimen obtained in syringe or tube toxic to cells.

    Specimen Stability:

  • Amniotic fluid stable at 18-25°C for 48 hours

    • Storage and Handling:

  • Ship ambient overnight and for Saturday delivery
  • Ship on Saturday for Monday delivery and protect sample from extreme temperature

    • 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.

    References:

    1. ACOG and ACMG (2001). Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Washington, DC: ACOG
    2. Grody et al. (2001).  Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3(2):149
    3. 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.