type your search, and then press enter
Diagnostic tests
Test request
Pathologies
Genetic counseling

Cone-rod Dystrophy Panel

Cone rod dystrophy is characterized by the dysfunction of the cones which, in a high percentage of cases, precedes a degeneration of the rods. Initial signs and symptoms that usually occur in childhood may include decreased sharpness of vision (visual acuity) , abnormal sensitivity to light (photophobia), and loss of central vision. It has a prevalence of between 1: 30,000 and 1: 40,000 individuals. It is inherited following all Mendelian patterns: autosomal dominant, autosomal recessive, and sex-linked. The DBGen Cone and Cane Dystrophy Panel includes the study of the coding regions of 57 genes and 14 deep intronic mutations.

Main Pathologies


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

  • Bradyopsia

  • Cone-rod Dystrophy


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.

ABCA4, ACBD5, ADAM9, ADAMTS18, AIPL1, ARHGEF18, ARL2, BEST1, C21ORF2, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP250, CEP78, CERKL, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, DRAM2, ELOVL4, FBLN5, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, MKKS, OPN1LW, OPN1MW, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RIMS2, RPGR, RPGRIP1, SEMA4A, SEMA6B, TTLL5, UNC119

NGS sequencing of reported mutations in non-coding regions:

ABCA4 (tots els introns), C21ORF2 c.643-23A>T; CEP290 c.2991+1655A>G; CLN3 c.1056+34C>A; CNGA3 c.-37-1G>C; CNGB3 c.1663–1205G>A; GNAT2 c.461+24G>A; GUCY2D c.-9-137T>C; PROM1 c.2077-521A>G; 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

Copyright © 2021. All Rights Reserved -