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Neuro-ophthalmological Disorders Panel – New

Neuro-ophthalmological disorders can only affect the visual system or be associated with different neurological symptoms. Optic atrophy is follows an autosomal dominant, autosomal recessive or X-linked inheritance pattern. These disorders affect the optic nerve, which is responsible for transmitting the nerve impulse from the retina to the brain. These pathologies are characterized by moderate to severe vision loss. The DBGen Neuro-ophthalmological Disorders Panel studies 76 genes causing the most frequent neuro-ophthalmological pathologies, including optic atrophy.

Main Pathologies


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

  • Optic Atrophy

  • Optic Nerve Hypoplasia

  • Nystagmus

  • Progressive External Ophthalmoplegia

  • Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

  • Costeff Optic Atrophy Syndrome


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.

ACO2, AFG3L2, ANTXR1, APTX, ATAD3A, ATP1A1, ATP1A3, ATXN7, AUH, B4GAT1, C10ORF2, C12ORF65, C19ORF12, CHN1, CISD2, DNAJC19, DNM1L, FBLN5, FDXR, FKRP, FRMD7, GPR143, HADHA, HESX1, KIF21A, LAMB2, LARGE1, MCAT, MECR, MFN2, MTPAP, NBAS, NDUFS1, NDUFS2, NR2F1, OPA1, OPA3, OTX2, PAX6, PHOX2A, POLG, POLG2, POMGNT2, POMK, POMT1, POMT2, PROKR2, PRPS1, ROBO3, RRM2B, RTN4IP1, SALL4, SCO2, SETX, SLC25A4, SLC25A46, SLC38A8, SLC52A2, SNX10, SOX2, SOX3, SPG7, SSBP1, TIMM8A, TK2, TMEM126A, TSFM, TSPAN6, TUBB3, TUBGCP4, TUBGCP6, TYMP, UCHL1, WFS1, YME1L1, ZNHIT3

NGS sequencing of reported mutations in non-coding regions:

FRMD7 c.285-118C>T; GPR143 c.659-131T>G; OPA1 c.32+24C>G, c.449-34dupA, c.610-360G>A, c.610-364 G>A, c.2014-40G>C; PAX6 c.357+136G>A, c.357+334G>A

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