Molecular confirmation of the diagnosis is usually attempted. Given the number of different genes where pathogenic variants can cause NS, the appropriateness and method of gene testing should be decided by a clinical geneticist. Variant testing confirms the diagnosis of NS in 90% of cases; in 10%, the responsible gene remains unknown. The number of patients identified with NS by molecular genetic test, rather than having a prior clinical diagnosis, is rising with the use of wider-scale gene panels for diagnosis of developmental disorders.
Reference:
- Allanson JE. Noonan syndrome. J Med Genet 1987; 24:9.
Modified from: van der Burgt I, Berends E, Lommen E, et al. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994; 53:187.
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