Ophthalmic Disorders

Introduction

We offer a comprehensive next generation sequencing mutation scan of 205 genes known to cause a variety of ophthalmic disorders. These are divided into 11 subpanels depending on the clinical indication (see below). We provide a comprehensive scientific interpretation of variants found and issue a report summarising our findings.

Referral information

We offer mutation scanning in affected individuals. This testing is relevant for sporadic cases or patients with a family history consistent with an autosomal dominant, recessive or X-linked family history of an ophthalmic disorder. On identification of a pathogenic change in an index case, presymptomatic and carrier testing of relatives of an index case can be offered. Testing of family members is often required to help interpret the findings. Referrals should be accompanied by a clinical diagnosis and details of family history. Referrals also should be accompanied by a completed standard referral request form and a clinical proforma indicating which panel(s) is required. For optimal results please send a fresh EDTA blood sample (1-4mls) or a minimum of 3 microgrammes of extracted DNA.

Clinical indication Genes analysed
Microphthalmia/Coloboma

 

ATOH7, BCOR, CHD7, DHCR7, FKRP, FKTN, GJA1, HMX1, LRP2, MAB21L2, OTX2, POMGNT1, POMT1, POMT2, PXDN, RAB18, RAB3GAP1, RAB3GAP2, SIX5, SIX6, SOLH, SOX2, SRD5A3, TBC1D20, TFAP2A, TMEM114, VSX2 (27 genes)
Stickler syndrome COL11A1, COL18A1, COL2A1, COL9A1, COL9A2 (5 genes)
Corneal abnormalities (including corneal dystrophy and BCS) ABCA3, ADAMTS18, ADAMTSL4, ALDH18A1, B3GALTL (B3GLCT), CHRDL1, CHST6, COL8A2, GJA1, GLS1, HMX1, KERA, KRT12, KRT3, LAMB2, MED25, MIR184, OVOL2 promoter, PIK3R1 , PIP5K3 (PIKFYVE), PRDM5, PXDN, RAB18, RAB3GAP1, RAB3GAP2, SLC16A12, SLC4A11, TACSTD2, TGFBI, UBIAD1, ZEB1, ZNF469 (32 genes)
Corneal dystrophy CHST6, COL8A2, KERA, KRT12, KRT3, MIR184, OVOL2 promoter, PIP5K3 (PIKFYVE), SLC4A11, TACSTD2, TGFBI, UBIAD1, ZEB1 (13 genes)
Brittle cornea syndrome PRDM5, ZNF469
Lens abnormalities, including Congenital Cataracts ABCA3, ABHD12, ABHD5 (CDS), ADAMTS10, ADAMTS17, ADAMTSL4, AGK, AGPS, AKR1E2, ALDH18A1, ATOH7, BCOR, BFSP1, BFSP2, CAV1, CBS, CHMP4B, CHRDL1, CLPB, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, DHCR7, DNAJB1, EBP, EIF2B2, EPG5, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, EYA1, FAM126A, FAR1, FBN1, FKRP, FKTN, FOXD3, FOXE3, FTL UTR promoter, FYCO1, GALK1, GALT, GBA2, GCNT2, GFER, GJA1, GJA3, GJA8, GNPAT, GTF2H5, HMX1, HSF4, JAM3, LAMB2, LARGE, LEPREL1 (P3H2), LIM2, LONP1, LRP2, LSS, LTBP2, MAF, MAN2A1, MAN2B1, MED25, MFSD6L, MIP, MIR184, MVK, MYH9, NDP, NF2, NHS, OAT, OCRL, OPA3, OTX2, PAX6, PEX1, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX6, PEX7, PITX2, PITX3, POMGNT1, POMT1, POMT2, PVRL3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL2 (WRN), RECQL4, RGS6, RNLS, SC5DL, SEC23A, SIL1, SIPA1L3, SIX5, SLC16A12, SLC2A1, SLC33A1, SOLH, SRD5A3, SREBF2, TBC1D20, TDRD7, TFAP2A, TMEM114, TMEM70, TRAPPC11, TRPM3, UNC45B, VIM, VSX2, WFS1, XYLT2 (142 genes)
Lens abnormalities (non-cataract) ADAMTS10, ADAMTS17, ADAMTSL4, CBS, CHRDL1, COL11A1, COL18A1, COL2A1, FBN1, LAMB2, LTBP2, PAX6 (12 genes)
Anterior segment dysgenesis  & Glaucoma ADAMTS10, ADAMTS17, ATOH7, B3GALTL (B3GLCT), COL4A1, CYP1B1, DDX58, DHCR7, DNAJB1, FBN1, FKRP, FKTN, FOXC1, FOXD3, FOXE3, GJA1, GPR180, HMX1, JAG1, LAMB2, LMX1B, LTBP2, MAF, MIR184, MYOC (TIGR), OPTN, PAX6, PEX1, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX6, PEX7, PIK3R1, PITX2, PITX3, POMGNT1, POMT1, POMT2, PXDN, SBF2, SLC38A8 (45 genes)
Ocular/Oculocutaneous albinism AP3B1, BLOC1S3, C10orf11, CACNA1F, DTNBP1, GPR143, HPS3, HPS4, HPS5 , HPS6, LYST, OCA2, PLDN (BLOC1S6), SLC24A5, SLC45A2, SLC4A11, TYR, TYRP1 (18 genes)
Foveal hypoplasia & nystagmus, including Ocular/Oculocutaneous albinism ACO2, AP3B1, ATOH7, BLOC1S3, C10orf11, CACNA1F, DTNBP1, FRMD7, GPR143, HMX1, HPS3, HPS4, HPS5 , HPS6, LYST, OCA2, PAX6, PLDN (BLOC1S6), RTN4IP1, SIX6, SLC24A5, SLC38A8, SLC45A2, SLC4A11, TYR, TYRP1 (26 genes)
Optic Nerve disorders (Including Ocular/Oculocutaneous albinism, foveal hypolasia & nystagmus, and optic atrophy) ACO2, AP3B1, ATOH7, BLOC1S3, C10orf11, C12orf65, CACNA1F, CISD2, DHCR7, DTNBP1, FRMD7, GJA1, GPR143, HMX1, HPS3, HPS4, HPS5 , HPS6, LARGE, LYST, OCA2, OPA1, OPA3, PAX6, PLDN (BLOC1S6), RAB18, RAB3GAP1, RAB3GAP2, RTN4IP1, SIX6, SLC24A5, SLC38A8, SLC45A2, SLC4A11, SOX2, TBC1D20, TMEM126A, TYR, TYRP1, WFS1 (40 genes)

Technical information

The assay covers genes known to cause a variety of ophthalmic disorders. The coding sequence and splice sites of 205 genes previously described in ophthalmic disorders are covered in the enrichment. Samples are sequenced on an Illumina HiSeq system. We undertake a complete bioinformatic analysis to highlight variants with a high likelihood of pathogenicity which are subsequently confirmed using conventional Sanger sequencing. Confirmation of variants of uncertain clinical significance identified by the next generation sequencing screen is available on request at an extra charge. On completion of the analysis a clinical report is issued incorporating a clinical interpretation of all pathogenic variants identified. In addition a technical report is made available to referrers summarising the coverage of the analysis and incorporating a full list of (non-validated) variants identified.

Price & reporting times

Please contact the lab for prices.

Test Price (£ ex VAT) TRT *
Ophthalmic subpanel POA 112 cd
Predictive/Family testing POA 28 cd
Prenatal testing POA 3 cd

Test validation & quality assurance - information for users

In a validation series of samples, 97% of target exons were covered at 50x depth or more. 6 Coriell cell line samples were run as part of the validation. All known variants for these samples within the ROI were confirmed within the NGS data. The laboratory is UKAS assessed against ISO 15189 standards.

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 601615, 613599, 604780, 100850, 608990, 607511, 607512, 610113, 610345, 603051, 138250, 603041, 609875, 610308, 300485, 603307, 603212, 609762, 614537, 613541, 300110, 601047, 613381, 608892, 610897, 300350, 605294, 142993, 611507, 616254, 120280, 120328, 120140, 120130, 120252, 120210, 120260, 123580, 123590, 123610, 600836, 123631, 600929, 123620, 123630, 123670, 123680, 123690, 123730, 604927, 601771, 606530, 601637, 609631, 602858, 604572, 607145, 300205, 606454, 615068, 176946, 126340, 133510, 609413, 609412, 601653, 610531, 616107, 134797, 606596, 607440, 601090, 611539, 601094, 300628, 607182, 604579, 604313, 606999, 614409, 600429, 600924, 121014, 121015, 600897, 602744, 300808, 607787, 608780, 142992, 606118, 606682, 607521, 607522, 602438, 601920, 606871, 603288, 601687, 148043, 150325, 603590, 610341, 154045, 602575, 605490, 600073, 603506, 600909, 602091, 606897, 604357, 177075, 154582, 609458, 610197, 154050, 613146, 251170, 160775, 601652, 300658, 607379, 300457, 613349, 611409, 300535, 605290, 606580, 602432, 600037, 616441, 607108, 602136, 601758, 601789, 603360, 170993, 608666, 603164, 601498, 601757, 171833, 609414, 601542, 602669, 60310, 614828, 607423, 607439, 614161, 605158, 602207, 602536, 609275, 604611, 603780, 603894, 609360, 61502, 607697, 602286, 610511, 608005, 616655, 600963, 606326, 611910, 138140, 609802, 603690, 615585, 606202, 610206, 603267, 184429, 611715, 600481, 137290, 611663, 611258, 107580, 190180, 611579, 612988, 614052, 614138, 608961, 606933, 115501, 611632, 611220, 193060, 142993, 606201, 608125, 189909, 612078

Gene(s) - ABCA3, ABHD12, ABHD5 (CDS), ACO2, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, AGK, AGPS, AKR1E2, ALDH18A1, AP3B1, ATOH7, B3GALTL (B3GLCT), BCOR, BFSP1, BFSP2, BLOC1S3, C10orf11, C12orf65, CACNA1F, CAV1, CBS, CHD7, CHMP4B, CHRDL1, CHST6, CISD2, CLPB, COL11A1, COL18A1, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP1B1, CYP27A1, CYP51A1, DDX58, DHCR7, DNAJB1, DTNBP1, EBP, EIF2B2, EPG5, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, EYA1, FAM126A, FAR1, FBN1, FKRP, FKTN, FOXC1, FOXD3, FOXE3, FRMD7, FTL (UTR Promoter, c.-149 – c.-415), FYCO1, FZD4, GALK1, GALT, GBA2, GCNT2, GFER, GJA1, GJA3, GJA8, GLS1, GNPAT, GPR143, GPR180, GTF2H5, HMX1, HPS3, HPS4, HPS5, HPS6, HSF4, JAG1, JAM3, KERA, KRT12, KRT3, LAMB2, LARGE, LEPREL1 (P3H2), LIM2, LMX1B, LONP1, LRP2, LRP5, LSS, LTBP2, LYST, MAB21L2, MAF, MAN2A1, MAN2B1, MED25, MFSD6L, MIP, MIR184, MVK, MYH9, MYOC (TIGR), NDP, NF2, NHS, OAT, OCA2, OCRL, OPA1, OPA3, OPTN, OTX2, OVOL2 promoter, PAX6, PEX1, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX6, PEX7, PIK3R1 , PIP5K3 (PIKFYVE), PITX2, PITX3, PLDN, BLOC1S6), POMGNT1, POMT1, POMT2, PRDM5, PVRL3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL2 (WRN), RECQL4, RGS6, RNLS, RTN4IP1, SBF2, SC5DL, SEC23A, SIL1, SIPA1L3, SIX5, SIX6, SLC16A12, SLC2A1, SLC24A5, SLC33A1, SLC38A8, SLC45A2, SLC4A11, SOLH, SOX2, SRD5A3, SREBF2, TACSTD2, TBC1D20, TDRD7, TFAP2A, TGFBI, TMEM114, TMEM126A, TMEM70, TRAPPC11, TRPM3, TYR, TYRP1, UBIAD1, UNC45B, VIM, VSX2, WFS1, XYLT2, ZEB1, ZNF469

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