Polycystic kidney disease other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2]

Overview

Other diagnostic studies for polycystic kidney disease include, genetic testing, which demonstrates, frame insertions / deletions, non-canonical splice site alterations, combined missense changes.

Other Diagnostic Studies

Other diagnostic studies for polycystic kidney disease include:
- Genetic testing, which demonstrates:^[1]^[2]
  - Frame insertions/deletions
  - Non-canonical splice site alterations
  - Combined missense changes

References

↑ Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK; et al. (2007). “Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease”. Mol Genet Metab. 92 (1–2): 160–7. doi:10.1016/j.ymgme.2007.05.004. PMC 2085355. PMID 17574468.
↑ Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ; et al. (2007). “Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease”. J Am Soc Nephrol. 18 (7): 2143–60. doi:10.1681/ASN.2006121387. PMID 17582161.

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[pmid17574468-1] Garcia-Gonzalez MA, Jones JG, Allen SK, Palatucci CM, Batish SD, Seltzer WK; et al. (2007). “Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease”. Mol Genet Metab. 92 (1–2): 160–7. doi:10.1016/j.ymgme.2007.05.004. PMC 2085355. PMID 17574468.

[pmid17582161-2] Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ; et al. (2007). “Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease”. J Am Soc Nephrol. 18 (7): 2143–60. doi:10.1681/ASN.2006121387. PMID 17582161.

[1]

[2]

Polycystic kidney disease other diagnostic studies

Overview

Other Diagnostic Studies

References

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