Ophthalmology

Precision genetics for inherited eye disorders

Ophthalmology Genetic Testing

Transforming eye care through advanced genetic testing.

Inherited eye disorders are a major cause of visual impairment and blindness, affecting both children and adults. Advances in genetic testing have transformed the diagnosis and management of ophthalmic diseases, enabling earlier diagnosis, more accurate prognoses, informed family planning, and access to emerging targeted therapies and clinical trials.

At Amplexa Genetics, we offer comprehensive genetic testing for a broad spectrum of inherited eye conditions using state-of-the-art next-generation sequencing (NGS) technologies. Our ophthalmology portfolio includes disease-specific NGS panels covering a wide range of inherited ocular disorders. These include panels for inherited retinal dystrophies, optic neuropathies, glaucoma, macular dystrophies, congenital eye malformations, syndromic ophthalmic disorders, and other rare genetic eye diseases. Each panel is designed to provide comprehensive analysis of clinically relevant genes, supporting accurate molecular diagnosis and guiding patient management.

List of Gene Panels:

  • Achromatopsia panel (10 genes)
  • Albinism panel (28 genes)
  • Bardet-Biedl Syndrome panel (24 genes)
  • Cone Rod Dystrophies panel (44 genes)
  • Congenital Stationary Night Blindness panel (22 genes)
  • Familial Exudative Vitreoretinopathy og Wagner Syndrom panel (8 genes)
  • Flecked retina (7 genes)
  • Glaucoma (23 genes)
  • Hereditary sensory autonomic neuropathy (14 genes)
  • Hermansky-Pudlak Syndrome (9 genes)
  • Joubert Syndrom panel (28 genes)
  • Leber Congenital Amaurosis panel (22 genes)
  • Microphthalmia (74 genes)
  • Oculomotor apraxia (4 genes)
  • Ophthalmoplegia (8 genes)