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How are genetic tests used to help patients with cystic fibrosis (CF)?

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Genetic tests can diagnose cystic fibrosis (CF), or help your doctor prescribe a treatment. Genetic tests can also tell you your chances of having a child with the disease.

SOURCES:

Patrick Sosnay, M.D., physician, Johns Hopkins Cystic Fibrosis Center; assistant professor of medicine, pulmonary and critical care department, Johns Hopkins University School of Medicine.

Cystic Fibrosis Foundation: “Carrier Testing for CF,” “Newborn Screening for CF,” “Know Your CF Mutations.”

Human Genome Variation: “p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.”

Journal of Biological Chemistry : “Antibody against a cystic fibrosis transmembrane conductance regulator-derived synthetic peptide inhibits anion currents in human colonic cell line T84.”

American College of Obstetrics and Gynecology: “Cystic Fibrosis: Prenatal Screening and Diagnosis.”

U.S. National Library of Medicine Genetics Home Reference: “Cystic Fibrosis.”

CDC: “Chorionic Villus Sampling and Amniocentesis: Recommendations for Prenatal Counseling.”

Reviewed by Dan Brennan on May 07, 2019

SOURCES:

Patrick Sosnay, M.D., physician, Johns Hopkins Cystic Fibrosis Center; assistant professor of medicine, pulmonary and critical care department, Johns Hopkins University School of Medicine.

Cystic Fibrosis Foundation: “Carrier Testing for CF,” “Newborn Screening for CF,” “Know Your CF Mutations.”

Human Genome Variation: “p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.”

Journal of Biological Chemistry : “Antibody against a cystic fibrosis transmembrane conductance regulator-derived synthetic peptide inhibits anion currents in human colonic cell line T84.”

American College of Obstetrics and Gynecology: “Cystic Fibrosis: Prenatal Screening and Diagnosis.”

U.S. National Library of Medicine Genetics Home Reference: “Cystic Fibrosis.”

CDC: “Chorionic Villus Sampling and Amniocentesis: Recommendations for Prenatal Counseling.”

Reviewed by Dan Brennan on May 07, 2019

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How is a genetic test for cystic fibrosis (CF) done?

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