Whole Genome Sequencing (WGS)

Simultaneous, automated, fast and precise sequencing of the coding (exons) and non-coding (introns and regulatory sequences) of the human genome with an average coverage greater than 30x. Subsequently, using bioinformatics programs, tany genetic variants found in the genes that cause hereditary eye diseases are analyzed. Unlike analysis by specific panels or whole exome sequencing, whole genome sequencing allows to identify any type of mutation: single nucleotide variants, copy number variation and large genomic rearrangements.
It allows the genetic diagnosis of any ocular pathology that affects the optic nerve and the anterior and posterior segment of the eye. The main pathologies are listed below:
  • Anophthalmia
  • Anterior segment dysgenesis
  • Biotinidase deficiency
  • Blepharophimosis syndrome
  • Branchiooculofacial syndrome
  • Brittle cornea syndrome
  • Catarats
  • Charcot-Marie-Tooth disease
  • Ched corneal endothelial dystrophy
  • Chediak-Higashi syndrome
  • Coloboma
  • Congenital stromal corneal dystrophy
  • Corneal disease
  • Donnai-Barrow syndrome
  • Duane-radial ray syndrome
  • Ectopia lentis
  • EEC syndrome
  • Fehr corneal dystrophy
  • Fleck corneal dystrophy
  • Fraser syndrome
  • Fuchs' Endothelial Dystrophy
  • Gelatinous drop-like corneal dystrophy
  • Groenouw corneal dystrophy
  • Heimler syndrome
  • Keratoconus
  • Lattice dystrophy type I
  • Leber hereditary optic neuropathy
  • Lenz microphthalmia syndrome
  • Lowe syndrome
  • Macular dystrophy
  • Meesmann corneal dystrophy
  • Megalocornea
  • Microftalmia
  • Neuronal ceroid lipofuscinosis
  • Oculoauriculovertebral spectrum / Hemifacial microsomia
  • Oculodentodigital dysplasia
  • Oculofaciocardiodental syndrome
  • Optic neuropathy
  • Oral-facial-digital syndrome
  • Peters plus syndrome
  • Posterior polymorphous corneal dystrophy
  • Progressive external ophthalmoplegia
  • Reis-Bucklers corneal dystrophy
  • Retinal dystrophy syndrome
  • Retinal vasculopathy
  • Schnyder corneal dystrophy
  • Warburg micro syndrome
  • Wolfram syndrome
  • Xeroderma pigmentosum
  • Zellweger spectrum disorder
All the coding (exons) and noncoding regions (introns and regulatory sequences) of the patient's genome are sequenced simultaneously.
It is the strategy of choice for the identification of large genomic rearrangements, copy number variations (CNVs) and deep-intronic mutations.

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