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Albinism Panel

Albinism is characterized by the total or partial absence of pigment in the eyes, skin and hair. It is inherited following an autosomal recessive pattern. Its population frequency is 1: 17,000 individuals. The DBGen Albinism Panel includes the study of the coding regions of 28 genes and 2 deep intronic mutations.
Test request
12 – 14 weeks

Magna Myopia

Panel of Syndromes that present with Strabismus (Congenital Cranial Dysinnervation Disorders)

Whole Genome Sequencing (WGS)

Whole Exome Sequencing (WES)

Retinal Dystrophies Panel

Anterior Segment Dysgenesis and Dystrophies Panel

Achromatopsia Panel

Albinism Panel

Leber Congenital Amaurosis Panel

Cataract Panel

Congenital Stationary Night Blindness Panel

Neuro-ophthalmological Disorders Panel

Cone-rod Dystrophy Panel

Macular Dystrophies and Stargardt Disease Panel

Glaucoma Panel

Retinitis Pigmentosa Panel

Bardet-Biedl Syndrome Panel

Joubert Syndrome Panel

Usher Syndrome Panel

Vitreoretinopathy and Stickler Syndrome Panel

The panel includes the genes most often responsible for the following disorders:
  • Albinism
  • Oculocutaneous albinism
  • Hermansky-Pudlak syndrome
  • Waardenburg syndrome

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Genetic diagnosis laboratory authorized by the Department of Health of the Government of Catalonia – E08709630

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