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This test is intended for the evaluation of carrier status for 139 clinically relevant variants of the cystic �brosis transmembrane conductance regulator (CFTR) gene, including the 23 mutations speci�ed in the American College of Medical Genetics (ACMG) standards for population based carrier screening.

Cystic Fibrosis

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Test Information

Cystic f ibrosis can a�ect the whole body.

In the lungs, malfunction of CFTR leads to thick mucus that obstructs the airways. When mucus is not cleared, it creates an environment for bacteria to grow and infect the airways. This leads to a vicious cycle with more mucus, more airway blockage and more infections. Over the course of many years, this damages the airways and eventually the lung tissue.

CF also a�ects other organs and systems in the body.

How Cystic Fibrosis A�ects Your Body

Disclaimers

The results in this report must always be interpreted within the context of other clinical �ndings and a physician should always consider the report along with all other pertinent information and data that a physician would prudently consider prior to providing a diagnosis to a patient or developing and implementing a plan of care for a patient. The report should never be considered or relied upon alone in making any diagnosis or prognosis. The Report provided by SMA Specialty Medical Lab is provided on an "AS IS" basis. SMA Specialty Medical Lab makes no representation or warranty of any kind, expressed or implied, regarding the report. In no event shall SMA Specialty Medical Lab be liable for any actual damages, indirect damages, and/or special or consequential damages arising out of or in any way connected with the report, your use of the report, your reliance on the report, or any defect or inaccurate information included within the report.

Pursuant to the requirements of federal regulations listed in the Clinical Laboratory Improvement Amendments of 1988 (CLIA), this laboratory veri�ed the test's accuracy and precision. However, a false positive or false negative result incurred during any phase of the testing cannot be completely excluded. This laboratory is accredited by the College of American Pathologists and certi�ed by CLIA to perform high complexity testing. SMA Specialty Medical Lab is not responsible for errors made prior to receipt of sample at our laboratory.

FDA-cleared next-generation sequencing assay utilizing the MiSeqDx platform to detect 139 clinically relevant cystic �brosis (CF) variants

Cystic f ibrosis is genetic.People with this condition don’t make enough or make an abnormal version of a protein called cystic �brosis transmembrane regulator (CFTR).CFTR is present on the cell surface in many organs and regulates the movement of salt-sodium (Na) and chloride (CI) ions, as well as water across the cell surface.

Facts About Cystic Fibrosis··

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· This test is for use in adults of reproductive age.

This test should be utilized as an initial test to aid in the diagnosis of individuals with suspected cystic f ibrosis.

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