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Leber Congenital Amaurosis Panel

Leber's congenital amaurosis (ACL) is one of the most severe retinal dystrophies beginning at infancy. It is characterized by loss of vision and other ocular problems such as nystagmus, amaurotic pupils, and photophobia. It is inherited following an autosomal recessive pattern. The ACL explains 20% of cases of blindness in children, with a population incidence of 1: 50,000 individuals. The DBGen Leber Congenital Amaurosis Panel includes the genetic study of the coding regions of 36 genes and 9 deep intronic mutations.

Main Pathologies


The panel includes the genes most often responsible for the following disorders:

  • Leber Congenital Amaurosis


Panel type and genes analyzed


MEDIUM

NGS Sequencing of all coding and splice regions, comprising at least 20 nucleotides of the intron regions flanking the exon-intron boundaries.

AIPL1, ALMS1, BBS4, CABP4, CCT2, CEP290, CLUAP1, CNGA3, CRB1, CRX, CWC27, DTHD1, GDF6, GUCY2D, IDH3A, IFT52, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, PRPH2, RD3, RDH12, RDH5, RPE65, RPGR, RPGRIP1, SPATA7, TUBB4B, TULP1, USP45

NGS Sequencing of reported mutations in non-coding regions:

CEP290 c.2991+1655A>G; CNGA3 c.-37-1G>C; IMPDH1 c.402+57G>A; RDH12 c.848+82C>G; RPGR c.1059+363G>A, c.1905+1553A>C; RPGRIP1 c.1468-263G>C, c.1611+27G>A, c.2367+23delG

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