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Cystic fibrosis (CFTR) gene mutation

Accredited Facility E-report Qualified Specialists

This test is done to identify mutations in the CFTR gene that are responsible for cystic fibrosis. It helps determine whether a person is a carrier or affected by the condition, which can impact lung function, digestion, and salt balance in the body. It is also used for family planning and genetic risk assessment.

  • If there is a family history of cystic fibrosis.
  • If a newborn or child shows symptoms such as persistent lung infections or poor growth.
  • If you are planning a pregnancy and want to assess genetic risk.
  • If a healthcare provider suspects cystic fibrosis based on clinical symptoms.
    • No fasting is required.
    • No special preparation is usually needed.
    • Genetic counseling may be recommended before or after testing.
    • Follow any instructions provided by the laboratory or healthcare provider. 
    Cystic fibrosis (CFTR) gene mutation
    No labs currently offering this test.