Cystic fibrosis

NHSE funded test referrals should be in accordance with the National Genomic Test Directory for rare disease and meet eligibility criteria: National Genomic Test Directory - NHS England.

• R184 Cystic fibrosis diagnostic test
• R185 Cystic fibrosis carrier testing
• R253 Cystic fibrosis newborn screening follow-up

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Genetic testing for cystic fibrosis (CF) and CFTR-related disorders (R184 / R185 / R253)

Testing for previously identified familial variants, as clinically appropriate, is available.