Cystic Fibrosis 36 Common Mutations

One of the most common inherited diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up. This accumulation of mucus can impair the pancreas and, the intestine. Progressive mucous build-up in the lungs tends to impair respiration.

CF is inherited in an autosomal recessive manner and affects both males and females. It is caused by a mutation in the gene encoding CFTR on chromosome 7. DeltaF508, the most common mutation, results in the production of a misfolded CFTR protein that is retained in the endoplasmic reticulum and targeted for degradation.

Detection:   ~ 97% detection in the Ashkenazi Jewish population
                   ~ 88% detection in the non Hispanic Caucasian population
                   ~ 69% detection in the African American population
                   ~ 57% detection in the Hispanic Caucasian population
                      Unknown detection in the Asian American population

The detection rates reflect those published in the CFTR - Related Disorders GeneReviews

Methodology:    Allele-specific genotyping by MALDI-TOF mass spectrometry

Purpose: Confirmation of Clinical Diagnosis/Carrier Testing

ICD-9 Code 277.00/V83.81

Test Requisition: Molecular Requisition

CPT Code: 81220 Cost: $348.00

Turn-around-time: 2 weeks