12 – 14 weeks

Syndromic Retinal Distrophy Panel

Syndromic IRDs are rare disorders. Many can be classified in two groups, ciliopathies and inborn errors of metabolism. The tissues commonly involved are the central nervous system, ophthalmic extra-retinal tissues, ear, skeleton, kidney and the cardiovascular system. Many causative genes that follow a recessive pattern of inheritance have been reported.

The DBGen Syndromic Retinal Distrophy panel includes the coding regions of 174 genes associated with these pathologies.

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