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The test looks at 23 individual DNA alterations, including 21 specific point alterations in the APC, KRAS and p53 genes, as well as testing BAT26, a gene involved in microsatellite instability (MSI).
In some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified,
Point mutations in neurophysin II underline most cases of hereditary hypothalamic diabetes insipidus, a disorder resulting from insufficient ADH release into systemic circulation.