Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide

Table 2 Most frequent disease gene categories tested in patients

	Autosomal/X-Linked recessive	Chromosome/Gene R	Autosomal dominant/Aneuploidy	Late onset disease
1. Reproducing or selecting partner	X
2. At-risk conceptus or fetus	X	X
3. Affected newborn or minor	X	X	X
4. Affected adult	X	X	X	X

Legend: Carrier screening includes asymptomatic patients selecting partners, planning to conceive, or pregnant, and partners of identified carriers. Prenatal testing includes products of conception and at-risk fetuses. Symptomatic newborns and minors can be tested for autosomal dominant disease loci to determine the cause of their abnormal phenotype. Adults could be tested for selected late-onset disease genes and males for Y-linked infertility.

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