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oftalmologia

Ophthalmology

Microphthalmia, syndromic 3 (sequence analysis of SOX2 gene)
Retinal diseases (WES based NGS panel of 309 genes, including CNV analysis)
Diseases of the posterior ocular segment (WES based NGS panel for 307 gene, including CNV analysis)
Retinitis pigmentosa 10 (sequence analysis of IMPDH1 gene)
Cataracts (WES based NGS panel of 101 genes, including CNV analysis)
Glaucoma (NGS panel of 4 genes)
Nonaka distal myopathy (sequence analysis of GNE gene)
Progressive external ophthalmoplegia (sequence analysis of POLG gene)
Usher syndrome type IJ (sequence analysis of CIB2 gene)
Stargardt disease and macular dystrophy (WES based NGS panel of 15 genes, including CNV analysis)
Cone-rod dystrophy (sequence analysis of AIPL1 gene)
Ocular anterior segment mesenchymal dysgenesis (sequence analysis of PXDN gene)
Corneal anomalies (NGS panel of 33 genes)
Leber congenital amaurosis (sequence analysis of RPGRIP1 gene)
Hereditary optic neuropathy (WES based NGS panel of 36 genes, including CNV analysis)
Vitreoretinopathy (NGS panel of 27 genes)
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