Sequencing panels

  • Retinal dystrophies and differential diagnosis [476 genes]

    Ref.: S-202212699|Turnaround time (TAT) 25 days

    • Retinitis pigmentosa [107 genes]

      Ref.: S-202313091|Turnaround time (TAT) 25 days

    • Atypical retinitis pigmentosa [79 genes]

      Ref.: S-202313092|Turnaround time (TAT) 25 days

      • Usher syndrome [14 genes]

        Ref.: S-202313093|Turnaround time (TAT) 25 days

      • Bardet-Biedl syndrome [29 genes]

        Ref.: S-202313094|Turnaround time (TAT) 25 days

      • Retinitis punctata albescens / Fundus albipunctatus [4 genes]

        Ref.: S-202313095|Turnaround time (TAT) 25 days

      • Leber congenital amaurosis [27 genes]

        Ref.: S-202313096|Turnaround time (TAT) 25 days

      • Senior-Løken syndrome [15 genes]

        Ref.: S-202313097|Turnaround time (TAT) 25 days

      • Alström syndrome [1 gene]

        Ref.: S-202212148|Turnaround time (TAT) 25 days

      • Alström syndrome. Sequencing of the ALMS1 gene by Sanger [1 gene]

        Ref.: S-202211363|Turnaround time (TAT) 25 days

      • Sector retinitis pigmentosa [6 genes]

        Ref.: S-202313098|Turnaround time (TAT) 25 days

    • Cone-rod dystrophies [37 genes]

      Ref.: S-202313099|Turnaround time (TAT) 25 days

    • Stargardt disease [3 genes]

      Ref.: S-202211687|Turnaround time (TAT) 25 days

    • Bietti’s crystalline dystrophy [1 gene]

      Ref.: S-202313100|Turnaround time (TAT) 25 days

    • Retinopathy associated with Alport syndrome [3 genes]

      Ref.: S-201906489|Turnaround time (TAT) 25 days

    • Benign familial fleck retina [1 gene]

      Ref.: S-202313101|Turnaround time (TAT) 25 days

    • Congenital stationary night blindness [17 genes]

      Ref.: S-202313102|Turnaround time (TAT) 25 days

    • Achromatopsia [9 genes]

      Ref.: S-202313103|Turnaround time (TAT) 25 days

    • Vitelliform macular dystrophy [4 genes]

      Ref.: S-202313105|Turnaround time (TAT) 25 days

    • Retinal pattern dystrophy [3 genes]

      Ref.: S-202313106|Turnaround time (TAT) 25 days

    • Doyne honeycomb retinal dystrophy [1 gene]

      Ref.: S-202313107|Turnaround time (TAT) 25 days

    • Central areolar choroidal dystrophy [2 genes]

      Ref.: S-202313108|Turnaround time (TAT) 25 days

    • Sorsby fundus dystrophy [1 gene]

      Ref.: S-202313109|Turnaround time (TAT) 25 days

    • Stickler syndrome [8 genes]

      Ref.: S-202313111|Turnaround time (TAT) 25 days

    • Exudative vitreoretinopathy [13 genes]

      Ref.: S-202313112|Turnaround time (TAT) 25 days

    • Oculocutaneous albinism [8 genes]

      Ref.: S-202313114|Turnaround time (TAT) 25 days

  • Congenital cataracts [170 genes]

    Ref.: S-202313115|Turnaround time (TAT) 25 days

  • Ectopia lentis [44 genes]

    Ref.: S-202313116|Turnaround time (TAT) 25 days

  • Crystalline lens alterations [24 genes]

    Ref.: S-202313117|Turnaround time (TAT) 25 days

  • Corneal ectasia [18 genes]

    Ref.: S-202313118|Turnaround time (TAT) 25 days

  • Corneal dystrophies [32 genes]

    Ref.: S-202313119|Turnaround time (TAT) 25 days

  • Metabolic keratopathies [16 genes]

    Ref.: S-202313120|Turnaround time (TAT) 25 days

  • MAC (microphthalmia, anophthalmia, coloboma) [369 genes]

    Ref.: S-202313121|Turnaround time (TAT) 25 days

  • Primary and secondary glaucoma [335 genes]

    Ref.: S-202313122|Turnaround time (TAT) 25 days

  • Primary and secondary congenital glaucoma, juvenile open-angle glaucoma, and glaucoma associated with non-acquired ocular anomalies [55 genes]

    Ref.: S-202313123|Turnaround time (TAT) 25 days

  • Macular degeneration, age-related [18 genes]

    Ref.: S-202211782|Turnaround time (TAT) 25 days

  • High myopia [107 genes]

    Ref.: S-202313124|Turnaround time (TAT) 25 days

  • Non-syndromic high myopia [44 genes]

    Ref.: S-202313125|Turnaround time (TAT) 25 days

  • Congenital cranial dysinnervation disorders [54 genes]

    Ref.: S-202313126|Turnaround time (TAT) 25 days

  • Infantile nystagmus [86 genes]

    Ref.: S-202313127|Turnaround time (TAT) 25 days

  • Optic neuropathy [13 genes]

    Ref.: S-202008640|Turnaround time (TAT) 25 days

  • Leber hereditary optic neuropathy. Mutation detection in mitochondrial genes

    Ref.: S-202212459|Turnaround time (TAT) 20 days

  • Mitochondrial genome sequencing [37 genes]

    Ref.: S-201805389|Turnaround time (TAT) 25 days

Other services

Turnaround time (TAT): 2 weeks

Studies of carriers of previously described variants in the family using Sanger sequencing.

For structural variants (rearrangement, copy-number variation [insertions, deletions and duplications], inversions, translocations, etc. consult in

Turnaround time (TAT): 35 days

Service of sequencing and interpretation of individual genes. Depending on its size and the regions of interest, we can offer an approach based on Sanger sequencing or based on NGS (enrichment by amplicons or by hybridization probes). NGS-based approach enables detection of copy number variation (CNV).

Turnaround time (TAT): 35 days

Semi-quantitative and widely contrasted technique in molecular genetics laboratories, that allows the diagnosis of pathologies due to variation in the number of copies and, in some cases, to methylation alterations. There are many commercial kits for the study of individual genes, panels of genes related to certain pathologies or extensive chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on the MRC-Holland kits.