Hina Qamar, Iqbal A Memon, Tahir Sultan Shamsi.
Genetic Testing for Rare & Inherited Diseases.
Ophthalmol Update Jan ;15(4):459-60.

Mendelian Recessive disorders appear to be uncommon, but when reviewed as a group, these diseases appear within a significant portion of the population. In fact, Mendelian diseases collectively account for~20%of infant mortalities and~18% of pediatric hospitalizations. There are ~7,000 known rare Inherited diseases. Many of these are severe recessive, pediatric disorders. The number of germ-line-mutations associated with these inherited diseases now exceeds 100,000 and the mutations are focused in multiple gene regions. The Inherited Disease panel is a targeted sequencing panel that focuses on 552 genes to identify the underlying mutations associated with severe, recessive pediatric onset diseases, regardless of Syndromic physiological conditions.

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