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  • Molecular assay reagents intended to identify gene variants associated with a collection of hereditary eye disorders known as the microphthalmia, anophthalmia, coloboma (MAC) spectrum of ocular malformations, which are characterized by a reduction in eyeball size (microphthalmia), absence of the eyeball (anophthalmia), or missing portions of the eye (coloboma). Some versions of these reagents may also detect gene variants related to anterior segment dysgenesis, related eye disorders characterized by developmental abnormalities of the cornea, iris, and/or lens of the eye. Genetic variants at multiple loci have been associated with MAC spectrum disorders. These reagents are intended to detect various types of genetic changes (e.g., deletions, duplications, insertions, single nucleotide polymorphisms) in multiple MAC syndrome-associated loci simultaneously.
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