Ophthalmology
Non-syndromic retinal dystrophies
Non-syndromic retinal dystrophies extended analysis [166 genes]. Code R-196
Retinitis pigmentosa [86 genes]. Code R-196S288
Dystrophy of the cones and rods [37 genes]. Code R-196S293
Leber congenital amaurosis [27 genes]. Code R-196S291
Stargardt's disease and macular dystrophies [20 genes]. Code R-196S287
Stationary night blindness [16 genes]. Code R-196S292
Vitreoretinopathy [14 genes]. Code R-196S289
Acromatopsia [7 genes] Code R-196S290
Fundus albipunctatus, retinitis punctata albescens [4 genes]. Code R-196S286
Collagenopathies
Collagenopathies extended analysis [109 genes]. Code R-107
Stickler syndrome [5 genes]. Code R-107S214
Optic atrophy
Optic atrophy extended analysis [16 genes]. Code R-208
Leber's optic neuropathy Code R-208S294
Congenital nystagmus
Congenital cataract
Corneal dystrophies
Congenital glaucoma
Dysgenesis of the anterior segment of the eye
Coloboma, anophthalmia and microphthalmia
Usher Syndrome
Waardenburg Syndrome
Piebaldism
Oculocutaneous albinism
Ectopia lentis
Elastic pseudoexantoma
Tuberous sclerosis (TSC1 and TSC2)
Related Analyses
Array CGH 400 K
Array Agilent GenetiSure Postnatal Research CGH+SNP Microarray, 2x400K, average resolution 9.5 Kb, exon coverage ISCA genes: 89% ≧ 3 probes per exon; analysis performed using Agilent CytoGenomics 5.0.2.5 software
Limitations: The test is not able to highlight balanced structural rearrangements and/or underrepresented mosaicisms
Array CGH 180 K
Agilent GenetiSure Cyto 4x180K CGH array, average resolution 16.5 Kb (from 3.5kb in RefSeq genes to 19.8kb in the backbone), analysis performed using Agilent CytoGenomics 5.0.2.5 software
Limitations: The test is not able to highlight balanced structural rearrangements and/or underrepresented mosaicisms
MLPA
OCA2 SALSA MLPA Probemix P352 OCA2
TYR SALSA MLPA Probemix P352 OCA2
NF1 SALSA MLPA Probemix P081 NF1 mix 1 and 2
TYR SALSA MLPA Probemix P352 OCA2
NF1 SALSA MLPA Probemix P081 NF1 mix 1 and 2
Family Segregation Analysis, Research Variant Note
R&I Genetics offers the service of searching for known family variants. The analysis is carried out by Sanger resequencing, and for access it is necessary to indicate the nucleotide substitution and the corresponding transcript code (e.g. search for variant c.91C>T in the CFTR gene NM_000492)
Variant Search in Specific Genes
R&I Genetics offers the service of targeted analysis of one or more specifically requested genes. These must be indicated in the analysis request form in the dedicated section. The analysis will be performed by means of NGS or Sanger sequencing.