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

Table 1 Total population frequencies (Additional file 1 : Table S1A, B, C, D3, E right) by selected tested patient categories (Additional file 1 : Table S1D1, D2, E2)

*Note: These frequencies will be substantially higher for symtomatic patients*
Disease categories	Caucasian		Worldwide+
Tested	(a) Affected	(b) Heterozygote	(a’) Affected	(b’) Heterozygote
*1. COUPLES, Asymptomatic, at risk*		*~1/132*		*~1/174*
*(1A2b +1B2b) (ASYMPTOMATIC,*		*(~.76%)*		*(~.58%)*
*2. FETUSES, Abnormal*	*~1/11.0*		*(1/11.1)*
*(1A1a +1 B1a +2A1 + 3A)*	*(~9.2%)*		*(~9.0%)*
*3. NEWBORNS, Affected*	*~1/52*		*~1/54*
*(1A1a + 1B1a + 1Ca + 2c + 3A)*	*~1.91%*		*~1.86%*
*4. ADULTS(a), Affected*	*~1/37*			*~1/43*
*(1A1a,1B1a + 1Ca +1 Da +2A +3A)*	*~2.71%*		*~2.33%*

Testing for Abnormal Genotypes in Asymptomatic Adults and Symptomatic Fetuses, Newborns, Children, and Adults.
Frequencies for each disease category are listed in Additional file 1: Table S1 according to the frequency in the general population. Clinically affected patients tested for any age-appropriate category carry substantially greater frequencies of affected genotypes (Additional file 2: Table S2 and Additional file 3: Table S3). Age appropriate tests are anticipated to optimally identify specific diseases in affected patients according to patient category (Table 4).

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