Oftalmoloji
Fenotip ve hastalıklarla bağlantılı birden fazla geni tarayan NGS teknolojine dayalı tanı testleri
Panels
Congenital Cataract Precision Panel
A cataract is a loss of lens transparency. The crystalline lens plays a crucial role in the refractive vision by facilitating variable fine focusing of light onto the retina. Congenital cataracts are usually diagnosed at birth, failure to do so can result in permanent vision loss.
Cone Rod Dystrophy Precision Panel
Cone Rod Dystrophies (CRDs) are a clinically and genetically heterogeneous group of inherited retinal diseases characterized by cone photoreceptor degeneration which can lead to rod photoreceptor loss.
Optic Atrophy Precision Panel
Optic atrophy is the clinical manifestation of any disease process causing axon degeneration in the retinogeniculate pathway. Particularly, these diseases affect the retinal ganglion cells and their axons forming the optic nerve, which are in charge of transferring the visual information from the photoreceptors to the lateral geniculus in the brain.
Retinitis Pigmentosa Precision Panel
Retinitis Pigmentosa (RP) comprises a complex group of inherited dystrophies characterized by degeneration and dysfunction of the retina, affecting photoreceptor and pigment epithelial function. RP can be an isolated finding or be part of a syndrome that can be inherited in a dominant, recessive or X-linked pattern.
Leber Congenital Amaurosis Precision Panel
Leber Congenital Amaurosis (LCA) belongs to the spectrum of early-onset retinal dystrophies. It is a group of monogenic inherited retinal degenerations that show early onset and severe visual dysfunction.
Inherited Retinal Degeneration Precision Panel
Inherited Retinal Degeneration (IRD) are a group of rare retinal diseases that ultimately lead to the progressive loss of retinal photoreceptor cells and blindness. These diseases are phenotypically heterogeneous as they can affect individuals of all ages, can progress at different rates and are rare.
Corneal Dystrophies Precision Panel
Corneal Dystrophies (CD) are a group of genetic, commonly progressive, eye disorders in which abnormal material often accumulates in the clear outer layer of the eye (the cornea). The onset of symptoms varies between patients, from asymptomatic from significant vision impairment cases.
