METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other

Vision

Identifying the genetic cause for ocular disorders is challenging due to genetic heterogeneity. According to the World Health Organization (WHO) and the American Academy of ophthalmology (AAO), ~80% of blindness can be prevented or cured or the disease progression slowed if detected at early stages (WHO Fact Sheet). Given these statistics, the importance of early and accurate diagnosis cannot be understated. Our expert PhD staff have compiled a robust vision genetic test menu that offers genetic tests and panels for various vision concerns, including, but not limited to cataracts, glaucoma, cone-rod dystrophy and more.

CMA

Achromatopsia

Albinism

Alport Syndrome

Anophthalmia

Anterior Segment Dysgenesis

Ataxia-Oculomotor Apraxia

Axenfeld-Rieger Syndrome

Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES)

Brittle Cornea Syndrome

Cataracts

Comprehensive Ocular Disorders

Cone-Rod Dystrophy

Corneal Dystrophies

Cystinosis

Fibrosis of Extraocular Muscles

Flecked Retina Disorder

Glaucoma

Hermansky-Pudlak Syndrome

Hypopigmentation

Leber Congenital Amaurosis

Macular Dystrophies

Microphthalmia

Myopia

Nail-Patella Syndrome

Night Blindness

Oculopharyngeal Muscular Dystrophy

Ophthalmoplegia

Optic Atrophy

Retinal Dystrophies

Retinitis Pigmentosa

Retinoblastoma

Retinoschisis

Septo-optic Dysplasia

Stickler Syndrome

Strabismus Syndrome

Usher Syndrome

Vitreoretinopathy

Warburg Micro Syndrome

Wilson Disease

Wolfram Syndrome

Xeroderma Pigmentosum

METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
  • Other