LEBER CONGENITAL AMAUROSIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 35 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Leber Congenital Amaurosis Panel studies the main genetic causes of severe congenital retinal dystrophies, which present from birth with blindness or severely reduced vision, nystagmus, and absence of electroretinographic response. It includes genes responsible for classic LCA (RPE65, CEP290, GUCY2D, CRB1, AIPL1) and for forms related to progressive dystrophies or ciliopathies, such as Bardet-Biedl syndrome (BBS4) or Alström syndrome (ALMS1). Identifying the causative gene allows for accurate diagnosis, progression assessment, and evaluation of eligibility for gene therapies under development. Genes analyzed: RPE65, CEP290, GUCY2D, CRB1, AIPL1, LCA5, NMNAT1, CRX, RPGRIP1, RDH12, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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