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Carrier testing

Use the National Genomic Testing Directory to determine eligibility for Cystic Fibrosis carrier testing.
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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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