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Carrier testing

Use the National Genomic Testing Directory to determine eligibility for Cystic Fibrosis carrier testing.
The national Genomic Testing Directory (GTD) includes CF carrier testing eligibility criteria in England, and who it can currently be requested by: clinical genetics, fetal medicine & gynaecology. Please consult the directory for up-to-date information, or use an equivalent resource for your area.

The following list details who would typically be referred for genomic testing in England:

  • Prospective egg or sperm donor
  • Family history of CF in a close relative (up to 4th degree, i.e. in 1st cousin’s child or closer relative)
  • Or in a similar close relative of partner; partner of a known CF carrier
  • Close consanguineous couple (1st cousins), AND from an ethnic group with a high carrier frequency
  • Both parents of a fetus with echogenic bowel (where both parents are available)

CF carrier testing takes approximately 2 weeks for a test result and it identifies pathogenic variants responsible for approximately 90% of CF cases, but it is important to note this does not exclude all variants.

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Genomic Scenarios in Primary Care

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