Albinism Panel - DBGEN

Genetic counseling

12 – 14 weeks

Whole Genome Sequencing (WGS)

Whole Exome Sequencing (WES)

Retinal Dystrophies Panel

Achromatopsia Panel

Albinism Panel

Anterior Segment Dysgenesis and Dystrophies Panel

Bardet-Biedl Syndrome Panel

Cataract Panel – New

Cone-rod Dystrophy Panel

Congenital Stationary Night Blindness Panel

Ectopia Lentis Panel – New

Glaucoma Panel

Leber Congenital Amaurosis Panel

Macular Dystrophies and Stargardt Disease Panel

Magna Myopia – New

Neuro-ophthalmological Disorders and LHON Panel

Optic Atrophy Panel – New

Vitreoretinopathy and Stickler Syndrome Panel

Retinitis Pigmentosa Panel

Syndromic Retinal Distrophy Panel

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

Usher Syndrome Panel

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.

12 – 14 weeks

Whole Genome Sequencing (WGS)

Whole Exome Sequencing (WES)

Retinal Dystrophies Panel

Achromatopsia Panel

Albinism Panel

Anterior Segment Dysgenesis and Dystrophies Panel

Bardet-Biedl Syndrome Panel

Cataract Panel – New

Cone-rod Dystrophy Panel

Congenital Stationary Night Blindness Panel

Ectopia Lentis Panel – New

Glaucoma Panel

Leber Congenital Amaurosis Panel

Macular Dystrophies and Stargardt Disease Panel

Magna Myopia – New

Neuro-ophthalmological Disorders and LHON Panel

Optic Atrophy Panel – New

Vitreoretinopathy and Stickler Syndrome Panel

Retinitis Pigmentosa Panel

Syndromic Retinal Distrophy Panel

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