Cystic Fibrosis
CBAVD
Idiopathic Chronic Pancreatitis

Cystic Fibrosis (CF) is the most common lethal genetic disease in Caucasians, with a carrier frequency of about 1 in 25-30, resulting in one affected individual per 3200 live births. This disorder affects the epithelia of the respiratory and male genital tract, as well as the hepatobiliary, exocrine pancreas and exocrine sweat systems. Cardinal manifestations include progressive endobronchial damage secondary to recurrent airway inflammation and fibrosis, pancreatic insufficiency resulting in malabsorption, and male infertility resulting from absent or atrophic Wolffian duct structures. Some men may have isolated infertility due to congenital bilateral absence of the vas deferens (CBAVD), without any of the pulmonary of gastrointestinal complications associated with CF. Additionally, recent studies have shown that compound heterozygosity for mutations in the CFTR gene imparts a 33:1 relative risk for idiopathic chronic pancreatitis¹. The disease shows autosomal recessive inheritance (two copies of a mutation are necessary for expression of disease) and significant phenotypic variability.

While a mutation panel approach may be suitable for some populations, the detection rates diminish for certain ethnicities. Using the recommended 23 mutation panel test, detection rates are as follows: ~94% for Ashkenazi Jews, ~88% for non-Hispanic Caucasians, ~65% for African Americans, ~72% for Hispanic Caucasians, and ~49% for Asian Americans². Full sequencing analysis of the entire coding region and associated splice site junctions has an estimated detection rate of ~96%. More importantly, this detection rate is the same for any ethnic population. The added certainty of a negative result by full sequencing analysis is particularly important for cases with a clear clinical diagnosis, but for which only one or no mutations have been detected.

To open a printable assay summary in a new window, click the link below.

CFTR Gene Mutation Analysis Assay Summary
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF) and the CFTR Patient Information Form when ordering this test.

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