Ophthalmology Information for health professionals MEDICAL GENETIC TESTING FOR OPHTHALMOLOGY Recent technologies, in particularly Next Generation Sequencing (NGS), allows fast, accurate and valuable diagnostic tests. For Ophthalmology, CGC Genetics has an extensive list of medical genetic tests with clinical integration of results by our Medical Geneticists. 1. EXOME SEQUENCING: Exome Sequencing is a very efficient strategy to study most exons of a patient’s genome, unraveling mutations associated with specific disorders or phenotypes. With this diagnostic strategy, patients can be studied with a significantly reduced turnaround time and cost. CGC Genetics has available 2 options for Exome Sequencing: • Whole Exome Sequencing (WES), which analyzes the entire exome (about 20 000 genes); • Disease Exome by CGC Genetics, which analyzes about 6 000 clinically-relevant genes. Any of these can be performed in the index case or in a Trio. 2. NGS PANELS For NGS panels, several genes associated with the same phenotype are simultaneously sequenced. These panels provide increased diagnostic capability with a significantly reduced turnaround time and cost. CGC Genetics has several NGS panels for Ophthalmology that are constantly updated (www.cgcgenetics.com). Any gene studied in exome or NGS panel can also be individually sequenced and analyzed for deletion/duplication events. 3. EXPERTISE IN MEDICAL GENETICS CGC Genetics has Medical Geneticists specialized in genetic counseling for ophthalmological diseases who may advice in choosing the most appropriate genetic test or help in the interpretation of a result. NGS PANELS AVAILABLE FOR OPHTHALMOLOGY: • Cone-rod dystrophy • Retinite pigmentosa, AR and • Marfan and Loeys-Dietz • Neurofibromatosis • Stargardt disease and X-linked syndromes and aortic type 1 and type 2 and macular dystrophy • Stickler syndrome aneurysm Schwannomatosis • Microphthalmia • Usher syndrome • Albinism • Bardet-Biedl syndrome • Retinitis pigmentosa • Marfan and Loeys-Dietz • Leber congenital amaurosis • Senior-Loken syndrome • Retinitis pigmentosa, AD and syndromes • Cataracts X-linked • Ciliopathies LIST OF TESTS • Achromatopsia 2 (sequence analysis of • Bardet-Biedl syndrome 17 (sequence analysis • Chondrodysplasia punctata, X-linked • Duane retraction syndrome (sequence CNGA3 gene) of LZTFL1 gene) dominant (sequence analysis of EBP gene) analysis of SALL4 gene) • Achromatopsia 2 (sequence analysis of • Bardet-Biedl syndrome 4 (sequence analysis • Choriodal dystrophy, central areolar 2 • Duane retraction syndrome 2 (sequence PDE6C gene) of BBS4 gene) (sequence analysis of PRPH2 gene) analysis of CHN1 gene) • Achromatopsia 3 (sequence analysis of • Bardet-Biedl syndrome 7 (sequence analysis • Choroideremia (deletion/duplication analysis • Duane-radial ray syndrome (deletion/ CNGB3 gene) of BBS7 gene) on CHM, RPGR and RP2 gene) duplication analysis on SALL4 gene) • Achromatopsia 4 (sequence analysis of • Bardet-Biedl syndrome 9 (sequence analysis • Choroideremia (sequence analysis of CHM • Duane-radial ray syndrome (sequence GNAT2 gene) of BBS9 gene) gene) analysis of SALL4 gene) • Achromatopsia 6 (sequence analysis of • Bardet-Biedl syndrome CCDC28B related • Ciliopathies (NGS panel for 91 genes) • Dyskeratosis congenita (sequence analysis of PDE6H gene) (sequence analysis of CCDC28B gene) • Coloboma of optic disc (deletions/ CTC1 gene) • Alagille syndrome (deletion/duplication • Bardet-Biedl syndrome type 2 (sequence duplications analysis of PAX6 gene) • Ectodermal dysplasia, ectrodactyly and analysis on JAG1 gene) analysis of BBS2 gene) • Coloboma of optic nerve (sequence analysis macular dystrophy (sequence analysis of • Alagille syndrome (sequence analysis of • Bardet-Biedl syndrome type 5 (sequence of PAX6 gene) CDH3 gene) JAG1 gene) analysis of BBS5 gene) • Combined oxidative phosphorylation • Ectodermal dysplasia-ectrodactyly-macular • Alagille syndrome 2 (sequence analysis of • Bardet-Bield syndrome type 6 (sequence deficiency type 15 (sequence analysis of dystrophy syndrome (deletion/duplication NOTCH2 gene) analysis of MKKS gene) MTFMT gene) analysis of CDH3 gene) Ehlers-Danlos, Marfan and Loeys-Dietz • Aland Island eye disease (sequence analysis • Blepharophimosis, epicanthus inversus and • Cone-rod dystrophy (NGS panel for 36 genes) • of CACNA1F gene) ptosis, types 1 and 2 (BPES 1 and 2, deletion/ syndromes, aortic aneurysm and differential • Cone-rod dystrophy (sequence analysis of duplication analysis on FOXL2 gene) diagnosis (NGS panel for 44 genes) • Albinism (NGS panel for 12 genes) AIPL1 gene) • Bothnia retinal dystrophy (sequence analysis • Encephalomyopathy, mitochondrial • Albinism oculocutaneous type II (deletion/ • Cone-rod dystrophy (sequence analysis of of RLBP1 gene) (sequence analysis of MT-TL2 gene) duplication analysis on OCA2 gene) UNC119 gene) • Bradyopsia (sequence analysis of RGS9 gene) • Exudative vitreoretinopathy 5 (sequence • Albinism oculocutaneous type II (sequence • Cone-rod dystrophy 11 (sequence analysis of analysis of TSPAN12 gene) analysis of OCA2 gene) • Brittle cornea syndrome 1 (sequence analysis RAX2 gene) of ZNF469 gene) • Familial ectopia lentis (sequence analysis of • Albinism oculocutaneous type VI (sequence • Cone-rod dystrophy 14 (sequence analysis of ADAMTSL4 gene) analysis of SLC24A5 gene) • Capillary malformations, congenital GUCA1A gene) (mutation p. Arg183GIn on GNAQ gene) • Fibrosis of extraocular muscles, congenital 2 • Albinism oculocutaneous type VII (sequence • Cone-rod dystrophy 15 (sequence analysis of (sequence analysis of PHOX2A gene) analysis of C10orf11 gene) • Carney complex (deletion/duplication CDHR1 gene) analysis on PRKAR1A gene) • Fibrosis of extraocular muscles, congenital • Albinism, oculocutaneous type I (sequence • Cone-rod dystrophy 5 (sequence analysis of type 1 (sequence analysis of KIF21A gene) analysis of TYR gene) • Cataract 1, multiple types (sequence analysis PITPNM3 gene) of GJA8 gene) • Fleck retina, familial benign (sequence • Albinism, oculocutaneous type IB (deletion/ • Cone-rod dystrophy 7 (sequence analysis of analysis of PLA2G5 gene) duplication analysis on TYR gene) • Cataract 13 with adult i phenotype (sequence RIMS1 gene) analysis of GCNT2 gene) • Frank-ter Haar syndrome (sequence analysis • Alstrom syndrome (sequence analysis of • Cone-rod dystrophy 9 (sequence analysis of of SH3PXD2B gene) ALMS1 gene) • Cataract 17, multiple types (sequence ADAM9 gene) analysis of CRYBB1 gene) • Fraser syndrome (sequence analysis of GRIP1 • Alstrom syndrome (sequence analysis of • Cone-rod dystrophy, X-linked (sequence gene) exons 8, 10 and 16 of ALMS1 gene) • Cataract 18, AR (sequence analysis of FYCO1 analysis of exon 15a of RPGR gene) gene) • Fukuyama congenital muscular dystrophy • Amish infantile epilepsy syndrome (sequence • Congenital disorder of glycosylation type (sequence analysis of FKTN gene) analysis of ST3GAL5 gene) • Cataract 19 (sequence analysis of CRYBB3 Ia (deletion/duplication analysis on PMM2 Fundus albipunctatus (sequence analysis of gene) gene) • • Amyloidosis, finnish type (sequence analysis RLBP1 gene) of GSN gene) • Cataract 22, AR (sequence analysis of CRYBB3 • Congenital disorder of glycosylation type Ia Fundus albipunctatus and related disorders gene) (sequence analysis of PMM2 gene) • • Aniridia (deletion/duplication analysis on (NGS panel for 7 genes) PAX6 gene) • Cataract 23 (sequence analysis of CRYBA4 • Congenital fibrosis of extraocular muscles Galactosemia type II (sequence analysis of gene) (sequence analysis of TUBB2B gene) • • Aniridia (sequence analysis of PAX6 gene) GALK1 gene) • Cataract 33 (sequence analysis of BFSP1 • Congenital fibrosis of extraocular muscles • Anterior segment mesenchymal dysgenesis Gillespie syndrome (sequence analysis of gene) (sequence analysis of TUBB3 gene) • (sequence analysis of FOXE3 gene) ITPR1 gene) • Cataract 36 (sequence analysis of TDRD7 • Congenital glaucoma (deletion/duplication • Anterior segment mesenchymal dysgenesis Glaucoma, open angle type 1G (sequence gene) analysis on CYP1B1 gene) • (sequence analysis of PITX3 gene) analysis of WDR36 gene) • Cataract 38, AR (sequence analysis of AGK • Congenital glaucoma (sequence analysis of • Aplasia of lacrimal and salivary glands Glaucoma, primary congenital (sequence gene) CYP1B1 gene) • (sequence analysis of FGF10 gene) analysis of LTBP2 gene) • Cataract 4, multiple types (sequence analysis • Congenital muscular dystrophy and • Apolipoprotein E deficiency (sequence Glycosylation disorder type Id (sequence of CRYGD gene) hypoglycosylation of a-dystroglycan • analysis of APOE gene) analysis of ALG3 gene) • Cataract 40, X-linked (sequence analysis of (sequence analysis of B3GALNT2 gene) • Asphyxiating thoracic dystrophy of the • Glycosylation disorder type Ii (sequence NHS gene) • Congenital stationary night blindness 1C, newborn type 3 (deletions / duplications in analysis of ALG2 gene) the DYNC2H1 gene) • Cataract 5, multiple types (sequence analysis AR (deletion/duplication analysis of TRPM1 of HSF4 gene) gene) • GM1 Gangliosidosis (sequence analysis of • Ataxia with oculomotor apraxia (sequence GLB1 gene) analysis of APTX gene) • Cataract 9, multiple types (sequence analysis • Cornea plana 2, autosomal recessive of CRYAA gene) (sequence analysis of KERA gene) • GM2-gangliosidosis type 2 (Sandhoff disease, • Ataxia, posterior column, with retinitis sequence analysis of HEXB gene) pigmentosa (sequence analysis of FLVCR1 • Cataract type 12 (sequence analysis of BFSP2 • Corneal dystrophy, Avellino type