Genetic testing in ophthalmology is essential for diagnosing and managing a wide range of inherited eye disorders, including retinal disorders and Bilateral congenital or childhood onset cataracts many of these conditions, have a known genetic basis. Identifying the underlying genetic cause can confirm a diagnosis, clarify prognosis, and guide patient management including access to gene-specific therapies and clinical trials. It also enables early detection in at-risk family members and supports informed decisions around family planning. As gene therapy becomes increasingly viable in ophthalmology, genetic testing is a vital tool in delivering personalised care and improving long-term outcomes for individuals affected by inherited eye diseases.

Genetic testing for ocular genetic disorders can help you, the healthcare practitioner, to:

Identify patients who are at risk of developing ocular genetic disorders, enabling them to take preventative measures where possible.
Closely monitor patients with a known predisposition to ocular genetic disorders thereby facilitating early detection and treatment, which is known to have a positive impact on patient outcomes.
Identify and access targeted therapies that may benefit your patient.
Identify family members who may also be a risk, roll out cascade testing, and begin taking preventative measures where appropriate.
Direct your patients towards helpful patient resources and support groups.
Assist your patients with family planning.

Ophthalmology Gene Panel Tests available at Genseq

Genseq offer 13 ophthalmology gene panels (see table below). These are in silico panels based on whole exome sequencing (WES) data. All panels include single nucleotide variants (SNV), small insertions/deletions (indels), and copy number variation (CNV) analysis.

Test Code

Test Name

No. of Genes

Panel Content

OPE1002

Albinism or Congenital Nystagmus Panel

AP3B1, BLOC1S3, BLOC1S5, BLOC1S6, CACNA1A, CACNA1F, CASK, CLDN11, CNGB3, DCT, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LAMA1, LRMDA, LYST, OCA2, PAX6, RAB27A, SACS, SETX, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1

OPE1003

Bardet Biedl Syndrome Panel

ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, IFT27, IFT74, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TTC8

OPE1004

Bilateral Congenital or Childhood Onset Cataracts Panel

118

ABHD12, ADAMTS10, AGK, AGPS, ALDH18A1, ANAPC1, ATAD3A, B3GLCT, BCOR, BFSP1, BFSP2, CDK9, CHMP4B, COG4, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CYP27A1, CYP51A1, DHCR7, DNMBP, EIF2B2, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, FAR1, FOSL2, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GEMIN4, GFER, GJA3, GJA8, GNPAT, GTF2H5, HMX1, HSF4, HTRA2, HYCC1, INPP5K, INTS1, JAM3, LCAT, LETM1, LIM2, LONP1, LSS, MAF, MAN2B1, MED27, MIP, MIR184, MSMO1, MYH9, NACC1, NDP, NF2, NHS, NUP188, OCRL, OPA3, P3H2, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIK3C2A, PITX3, PLOD3, POLG, PXDN, RAB18, RAB3GAP1, RAB3GAP2, SC5D, SIL1, SLC16A12, SLC2A1, SLC33A1, SRD5A3, SREBF1, TDRD7, TFAP2A, VIM, VPS4A, VSX2, WFS1, WRN, XYLT2, ZNF526

OPE1005

Blepharophimosis Ptosis and Epicanthus Inversus Panel

FOXL2

OPE1001

Comprehensive Ophthalmology Panel

567

Download Panel Content

OPE1006

Congenital Fibrosis of the extraocular muscles Panel

COL25A1, KIF21A, MYF5, PHOX2A, TUBB3

OPE1007

Corneal Dystrophies Panel

CHST6, COL17A1, COL8A2, DCN, GRHL2, GSN, KERA, KRT12, KRT3, LCAT, LTBP2, OVOL2, PIKFYVE, PRDM5, SLC4A11, STS, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1, ZNF469

OPE1008

Optic Neuropathy Panel

ACO2, AFG3L2, ALPK1, ATG7, BTD, C19orf12, CISD2, DNAJC30, DNM1L, EPRS1, FDXR, HIKESHI, HK1, HSD17B10, ISCA2, LETM1, LHX2, MAG, MECR, MFF, MFN2, MT-ATP6, MT-ND1, MT-ND4, MT-ND6, MTRFR, NBAS, NDUFA12, NR2F1, OPA1, OPA3, PDXK, RTN4IP1, SLC25A46, SLC44A1, SLC52A2, SPG7, SSBP1, TFG, TMEM126A, UCHL1, WFS1

OPE1009

Pseudoxanthoma Elasticum Panel

ABCC6, ENPP1

OPE1010

Retinal Disorders Panel

285

Download Panel Content

OPE1011

Sporadic Aniridia Panel

FOXC1, ITPR1, PAX6

OPE1012

Stickler Syndrome Panel