Retinopathies: Retinitis pigmentosa, Cone/Cone-rod dystrophies, Leber congenital amaurosis and macular degeneration. Structural eye abnormalities: Microphthalmia/anophthalmia, Coloboma, Anterior chamber defects. Albinism Cataracts disorders
PURPOSE OF PROGRAMME:
Molecular testing for retinopathies, structural eye disorders and albinism.
MATERIAL PROVIDED: DNA in TE buffer
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 4
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
Gene panel, single gene and predictive/family tests
Details of the performance criteria for this programme can be obtained from UK NEQAS Genomics (GenQA) directly.
Telephone: +44 (0) 131 2426898
From 1st January 2018, Cytogenomics External Quality Assessment Service (CEQAS) and UK National External Quality Assessment Service (UK NEQAS) for Molecular Genetics merged to become Genomics Quality Assessment (GenQA). Please click here for an overview of GenQA