Direct genetic testing for cystic fibrosis is available now that the cystic fibrosis gene has been identified.
Is it true that direct genetic testing for cystic fibrosis is available now that the cystic fibrosis gene has been identified?
Yes. Direct genetic testing for cystic fibrosis is widely available and routinely used in clinical practice following the identification of the CFTR gene.
Verdict: SUPPORTED · 9 sources for, 0 against · Last checked
The retrieved papers consistently demonstrate that direct genetic testing and sequencing of the CFTR gene are established, standard diagnostic tools used across various clinical and research settings to identify cystic fibrosis-causing variants.
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HR, G., G, M., LC, V., & LA, R. (2026). Obstructive Azoospermia Revealing CFTR-Related Disorder in an Adult With Recurrent Pancreatitis.. doi.org. https://doi.org/10.7759/cureus.112411
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MF, A., H, A., T, A., B, H., A, K., M, J., A, A., R, A., & H, B. (2026). CFTR mutations and genotypic patterns among cystic fibrosis patients with allergic bronchopulmonary aspergillosis: analysis from a tertiary care center in Saudi Arabia.. doi.org. https://doi.org/10.3389/fped.2026.1938948
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D, R., L, Š., T, Ž., I, B., A, V. D., D, T., K, F., I, L., I, R., M, P., L, G., M, Ž., & A, M. (2026). Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine.. doi.org. https://doi.org/10.11613/bm.2026.030501
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MT, A., F, Ö., D, A., M, S., & A, K. (2026). Comparative Alignment of CFTR2 and CFTR-France Classifications with a Turkish Cystic Fibrosis Referral Cohort.. doi.org. https://doi.org/10.3390/ijms27177715
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T, S., S, K., T, T., T, K., J, T., J, K., F, A., M, T., K, M., & Y, Y. (2026). A Case of Cystic Fibrosis in a Japanese Man With Congenital Bilateral Absence of the Vas Deferens and Recurrent Pancreatitis Caused by a Homozygous c.1210-11 T > G Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene.. doi.org. https://doi.org/10.1002/rmb2.70018
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MY, D., AV, M., LV, K., NA, D., & VV, M. (2026). Analysis of CFTR mutation spectrum in Yugra region (Russian Federation).. doi.org. https://doi.org/10.18699/vjgb-26-78
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A, H. N., M, K., F, Z. M., R, Z., A, K., S, A., & S, Z. (2026). Genetic profiling enhances cystic fibrosis prenatal diagnosis.. doi.org. https://doi.org/10.1038/s41598-026-39400-y
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Y, Z., H, Z., M, F., Z, W., Z, C., Z, F., M, G., H, Y., C, Z., P, Y., & X, Z. (2026). Remodeling the pathological airway: advanced nanotechnology for diagnostics and therapeutics in cystic fibrosis.. doi.org. https://doi.org/10.1186/s12951-026-04689-4
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L, K., L, G., Y, B., & C, T. (2026). Cystic Fibrosis: Modern Diagnostic and Therapeutic Advances from Molecular Pathogenesis to Multidisciplinary Management.. doi.org. https://doi.org/10.3390/genes17070743
What does the evidence say?
The retrieved papers consistently demonstrate that direct genetic testing and sequencing of the CFTR gene are established, standard diagnostic tools used across various clinical and research settings to identify cystic fibrosis-causing variants.
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