Alport Syndrome

Alport Syndrome

Alport syndrome (AS) is an inherited, progressive disorder of renal, ocular and cochlear basement membranes. Clinically, it presents as a progressive inherited nephropathy. Symptoms include haematuria, proteinuria, high blood pressure, possible deafness and possible vision problems.

Alport Syndrome is a genetically heterogeneous disease arising from mutations in the genes coding for basement membrane type IV collagen. Mutations in any of these genes prevent the correct production or assembly of the type IV collagen network. Using massively parallel sequencing technologies all multiple genes can be sequenced simultaneously providing a rapid and cost effective service.

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