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NGS Targeted Gene Panels for Ophthalmics Genetics


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Ophthalmology is the scientific study of the eyes and their diseases. There are a number of known syndromes and diseases of the eyes that are based on genetic factors. Some of them are age-related macular degeneration (AMD), glaucoma, cornea related syndromes (including fuchs corneal endothelial dystrophy (FCED) and keratoconus (KC)), diabetic retinopathy (DR), and rhegmatogenous retinal detachment (RD).

Genome-wide association studies (GWAS) realized by high throughput methods such as next generation sequencing (NGS) enabled the identification of numerous single-nucleotide polymorphisms (SNPs) and other mutations related to hereditary eye diseases. For more information we recommend the review of GWAS in Ophthalmology from Chandra et al. 2014.

On this website a number of NGS targeted gene panels are introduced that are recommended for different eye related hereditary syndromes and diseases such as Axenfeld-Rieger syndrome, autosomal dominant optic atrophy (ADOA), retinitis pigmentosa, Bardet-Biedl syndrome, cataract, congenital stationary night blindness (CSNB) cone-rod dystrophy (CRD), ectopia lentis, glaucoma, senior-loken syndrome (SLSN), leber congenital amaurosis (LCA), oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Stickler syndrome, and macular dystrophy.

For more information on the targeted genes please contact the corresponding provider of the NGS panels.


Ophthalmics - NGS Panels

Albinism

Targeted genes: C10orf11, GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1

Source: CGC Genetics

Albinism panel

Targeted genes: C10ORF11, GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1

Source: Centogene

Albinism Sequencing Panel

Targeted Genes
AP3B1 BLOC1S3 BLOC1S6 C10ORF11 DNTBP1 GPR143 HPS1 HPS3 HPS4 HPS5 HPS6 LYST MLPH MYO5A OCA2 RAB27A SLC24A5 SLC45A2 TYPR1 TYR

Disorders
Albinism Oculocutaneous, albinism Ocular, albinism Hermansky, Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome

Source: UCGS

Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome

Multi Gene Panel (14 Genes)
ASPH B3GALTL COL4A1 COL4A2 CYP1B1 EYA1 FOXC1 FOXE3 LTBP2 MIR184 MYOC PAX6 PITX2 SLC38A8
Source: Medical Genetic Center

Autosomal Dominant Optic Atrophy – ADOA

Autosomal dominant optic atrophy (ADOA) is characterized by progressive bilateral blindness due to the loss of retinal ganglion cells and optic nerve deterioration. The severity of vision loss varies from nearly normal vision to complete blindness. The age of onset is usually between 4 and 6 years, but ADOA rarely causes severe vision impairment in childhood.
Source:Asper Biotech
Targeted genes: OPA1, OPA3, TMEM126A

Autosomal Dominant Retinitis Pigmentosa

Retinitis pigmentosa is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Affected individuals first experience night blindness, followed by reduction of the peripheral visual field and, sometimes, loss of central vision late in the course of the disease which eventually leads to blindness after several decades. Signs and symptoms often first appear in childhood, but severe visual problems do not usually develop until early adulthood. In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over loss of the visual field. RP is usually nonsyndromic but there are also many syndromic forms. The main risk factor is a family history of retinitis pigmentosa.
Source: Asper Biotech
Targeted genes: AIPL1, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP9, RPE65, SEMA4A, SNRNP200, TOPORS

Autosomal Recessive Retinitis Pigmentosa – AR RP

Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Affected individuals first experience night blindness, followed by reduction of the peripheral visual field and, sometimes, loss of central vision late in the course of the disease which eventually leads to blindness after several decades. Signs and symptoms often first appear in childhood, but severe visual problems do not usually develop until early adulthood. In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over loss of the visual field. RP is usually non-syndromic but there are also many syndromic forms.
Source: Asper Biotech
Targeted Genes: ABCA4, ARL6, BEST1, C2orf71, C8ORF37, CA4, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513

Bardet Biedl panel

Targeted genes: ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP

Source: Centogene

Bardet-Biedl syndrome (NGS panel)

Targeted genes (22): ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP

Source: CGC Genetics

Bardet-Biedl Syndrome NGS Panel

Targeted Genes: ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP
Source: Fulgent Diagnostics

Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Borjeson-Forssman-Lehmann syndrome, Alström syndrome, Albright hereditary osteodystrophy

Targeted genes: ALMS1, ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, GNAS, LZTFL1, MKS1, MKKS, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP
For more info visit the Asper Biotech website

BARDET-BIEDL SYNDROME SEQUENCING PANEL

Targeted Genes
ARL6 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CEP290 MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP

Source: UCGS

Cataract

Multi Gene Panel (65 Genes)
Targeted genes: ABCB6 BFSP1 BFSP2 CHMP4B COL11A1 COL18A1 COL2A1 COL4A1 COL4A2 CRYAA CRYAB CRYBA1 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CRYGS CTDP1 CYP27A1 EPG5 EPHA2 ERCC1 ERCC2 ERCC5 ERCC6 EYA1 FAM126A FOXC1 FOXE3 FTL FYCO1 GALK1 GCNT2 GJA3 GJA8 GLA HSF4 JAM3 LEPREL1 LIM2 LTBP2 MAF MIP MIR184 MYH9 NHS OPA3 PAX6 PITX2 RAB18 RAB3GAP1 RAB3GAP2 SIL1 SIX6 SLC16A12 SLC33A1 TBC1D20 TDRD7 TMEM114 VIM VSX2 WFS1
Source: Medical Genetics Center

Cataract panel

Targeted genes: AGK, CRYAA, CRYAB, CRYBB1, CRYBB3, CTDP1, FYCO1, GCNT2, GJA8, HSF4, LIM2, SIL1, TDRD7

Source: Centogene

Cataracts (NGS panel)

Targeted genes (41): AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, EPHA2, EYA1, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LEPREL1, LIM2, MAF, MIP, NHS, PAX6, PITX3, PXDN, SIL1, SLC16A12, TDRD7, VIM, WFS1

Source: CGC Genetics

Cone-Rod Dystrophy

Cone-rod dystrophy (CRD) is an inherited progressive disease characterized by the loss of the cone and rod photoreceptor cells, responsible for both central and color vision. The prevalence of CRD is estimated at 1 in 40,000.
The symptoms of CRD include decreased visual acuity followed by loss of peripheral vision, loss of color vision, sensitivity to bright lights and decreased sensitivity in the central visual field.
Source: Asper Biotech
Targeted genes: ABCA4, ADAM9, AIPL1, BEST1, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, C8ORF37, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR (ORF15 excluded), RPGRIP1, SEMA4A, UNC119

Cone-rod dystrophy

Targeted genes: ABCA4, ADAM9, AIPL1, BEST1, C8orf37, CABP4, CACNA1F, CACNA2D4, CDHR1, CNGA3, CNGB3, CNNM4, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, PCYT1A, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, UNC119, CERKL

Source: CGC Genetics

Cone-Rod Dystrophy NGS Panel

Targeted Genes: ABCA4, ADAM9, AIPL1, BEST1, C8orf37, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PITPNM3, PROM1, RAX2, RDH5, RIMS1, RPGRIP1, SEMA4A, UNC119
Source: Fulgent Diagnostics

Cone-rod and cone dystrophy panel

Targeted genes: ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119

Source: Centogene

Cone-Rod Dystrophy Sequencing Panel

Targeted genes: ABCA4, RDS (PRPH2)
Source: GeneDx

Congenital Stationary Night Blindness (CSNB)

Congenital Stationary Night Blindness (CSNB) consists of a group of eye disorders clinically characterized by vision impairment under dim light conditions, nystagmus, refractive error, or retinal changes. Different types of disorder can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner.
Source: Asper Biotech
Targeted genes: CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1

Corneal Dystrophy

Corneal dystrophy is a condition in which one or more parts of the cornea lose their normal clarity due to a buildup of cloudy material. Most cases of corneal dystrophy are of three types, classified by their inheritance pattern: dominant granular dystrophies, recessive macular dystrophy and dominant lattice-like dystrophies. Corneal dystrophies are associated with corneal epithelium, Bowman’s layer, corneal stroma and corneal endothelium. Corneal dystrophies may be present at birth, but more frequently occur during adolescence.
Source: Asper Biotech
Targeted genes: CHST6, COL5A1, COL8A2, CYP4V2, DCN, GSN, KRT3, KRT12, LOXHD1, PIKFYVE, PRDM5, SLC4A11, SOD1, ZEB1, ZNF469, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1

Ectopia Lentis

Multi Gene Panel (10 Genes)
Targeted genes: ADAMTS10 ADAMTS17 ADAMTSL4 ASPH CBS COL11A1 COL18A1 COL2A1 FBN1 VCAN
Source: Medical Genetics Center

Eye Disorders NGS Panel

Targeted Genes: (138) ABCA4, ADAM9, AHI1, AIPL1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, C2orf71, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CEP290, CERKL, CHM, CLN3, CNGA1, CNGB1, CNGB3, CNNM4, COL11A1, COL2A1, COL9A1, CRB1, CRX, CYP1B1, CYP4V2, DFNB31, EFEMP1, ELOVL4, EYS, FAM161A, FOXC1, FSCN2, GNAT1, GRM6, GUCA1A, GUCA1B, GUCY2D, HMCN1, IDH3B, IMPDH1, IMPG2, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KLHL7, LCA5, LRAT, MERTK, MFRP, MKKS, MTTP, MYOC, NDP, NPHP1, NPHP3, NPHP4, NR2E3, NRL, OAT, OPA1, OPA3, OPTN, OTX2, PANK2, PAX2, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PEX1, PEX2, PEX7, PHYH, PITPNM3, PITX2, PRCD, PROM1, PRPF3, PRPF31, PRPF8, PRPH2, RAX2, RB1, RBP3, RBP4, RD3, RDH12, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, SAG, SEMA4A, SNRNP200, SOX2, SPATA7, TIMM8A, TIMP3, TMEM126A, TOPORS, TREX1, TRIM32, TRPM1, TTPA, TULP1, UNC119, USH1C, VCAN, VSX2, WFS1, ZNF513
Source: Fulgent Diagnostics

Flecked retina panel

Targeted genes: CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B

Source: Centogene

Glaucoma NGS Panel

Targeted Genes: ACVR1, BEST1, CA4, CANT1, COL18A1, CYP1B1, FOXC1, ISPD, LMX1B, LOXL1, LTBP2, MTHFR, MYOC, NTF4, OPA1, OPTN, PAX6, PITX3, POMT1, RPS19, RRM2B, SBF2, SLC4A4, TTR, WDR36
Source: Fulgent Diagnostics

Glaucoma panel

Targeted genes: ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1, LMX1B, LOXL1, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, WDR36

Source: Centogene

Hereditary Optic Atrophy

Multi Gene Panel (7 Genes)
Targeted genes: C12orf65 MFN2 MTPAP OPA1 OPA3 TMEM126A WFS1
Source: Medical Genetics Center

Hermansky-Pudlak syndrome panel

Targeted genes: HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3

Source: Centogene

Invitae Senior-Loken Syndrome Panel

The Invitae Senior-Loken Syndrome Panel analyzes four genes that are associated with Senior-Loken syndrome (SLSN). These genes are involved in the structure of cilia. Cilia are necessary for proper cellular motility, for the movement of material around a cell, and for chemical signaling pathways. Mutations in any of these genes impact the structure and function of cilia and likely disrupt signaling pathways.
Individuals inheriting heterozygous gene changes are at risk of developing visual impairment (including blindness) and end stage renal disease by the end of the second decade of life.
Source: Invitae

Leber congenital amaurosis

Targeted genes: AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1, PRPH2, GDF6

Source: CGC Genetics

Leber Congenital Amaurosis – LCA

Leber congenital amaurosis (LCA) is an early-onset and severe retinal dystrophy leading to congenital blindness. It is diagnosed by a severely reduced or absent electroretinogram (ERG) before one year of age. Shortly after birth, patients usually manifest poor fixation, nystagmus, photophobia, and amaurotic pupils. Later, in most patients, a large variety of retinal changes appear, including salt-and-pepper pigmentation, attenuated vessels, and atrophy of the retinal pigment epithelium (RPE).
Source: Asper Biotech
Targeted genes: AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1

Leber congenital amaurosis panel

Targeted genes: AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1

Source: Centogene

Leber optic atrophy panel

Targeted genes: MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6

Source: Centogene

Macular Degeneration NGS Panel

Targeted Genes: ABCA4, C2, C3, CFB, CFH, CFI, CNGB3, CST3, CX3CR1, EFEMP1, ELOVL4, ERCC6, FBLN5, HMCN1, HTRA1, PRPH2, RAX2, RLBP1, RPGR, TLR4
Source: Fulgent Diagnostics

Microphthalmia (NGS panel)

Targeted genes (26): ABCB6, ALDH1A3, BCOR, BMP4, CHD7, FREM1, GDF3, GDF6, HCCS, HMGB3, MAB21L2, MFRP, MITF, NAA10, OTX2, PRSS56, RARB, RAX, SHH, SIX6, SMOC1, SOX2, STRA6, TENM3, VAX1, VSX2

Source: CGC Genetics

Microphthalmia-Anophthalmia-Coloboma Complex (MAC)

Multi Gene Panel (48 Genes)
Targeted genes: ABCB6 ALDH1A3 BCOR BMP4 C12orf57 CHD7 CRYBA4 CYP1B1 ERCC1 ERCC2 ERCC5 ERCC6 FOXL2 FRAS1 FREM2 GDF3 GDF6 GJA1 GRIP1 HCCS HESX1 HMX1 MAB21L2 MFRP NDP OCRL OTX2 PAX2 PRSS56 RAB18 RAB3GAP1 RAB3GAP2 RAX SALL2 SHH SIX3 SIX6 SMOC1 SOX2 STRA6 TBC1D20 TENM3 TFAP2A TGIF1 VAX1 VPS13B VSX2 ZIC2
Source: Medical Genetics Center

Microphthalmia panel

Targeted genes: ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2, RAX, SIX6, SOX2, STRA6, TENM1, TENM3, VSX2

Source: Centogene

Ocular / Oculocutaneous Albinism

Multi Gene Panel (9 Genes)
Targeted genes: C10orf11 FRMD7 GPR143 OCA2 SLC24A5 SLC38A8 SLC45A2 TYR TYRP1
Source: Medical Genetics Center

Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome

Albinism is a group of congenital disorders of melanin production characterized by variable hypopigmentation and vision defects, including impaired visual acuity, nystagmus, strabismus, astigmatism, and photophobia. The complete or partial absence of pigment may affect the eyes, skin and hair (oculocutaneous albinism) or only the eyes (ocular albinism).
Additionally, there are also syndromic forms of albinism such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
Source: Asper Biotech
Targeted genes: AP3B1, BLOC1S3, BLOC1S6, C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP1

Oculomotor apraxia panel

Targeted genes: APTX, PIK3R5, SETX

Source: Centogene

Ophthalmoplegia (progressive external) panel

Targeted genes: C10orf2, DNA2, OPA1, POLG, POLG2, RRM2B, SLC25A4, TYMP

Source: Centogene

Optic atrophy panel

Targeted genes: AUH, C12ORF65, CISD2, NDUFS1, OPA1, OPA3, POLG, SPG7, TIMM8A, TMEM126A, WFS1

Source: Centogene

Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

Targeted genes: ACO2, ALG13, ALG3, APTX, AUH, C10ORF2, C12ORF65, CISD2, CLPB, COX7B, DARS, DDHD2, DGUOK, DNA2, DNAJC19, DNM1L, DPM1, EARS2, FH, GYG2, ISCA2, MCEE, MFF, MFN2, MGME1, MOGS, MTFMT, MTO1, MTPAP, NARS2, NDUFAF3 (C3ORF60), NR2F1, OPA1, OPA3, PDHX, PDSS1, POLG, POLG2, PRPS1, RRM2B, SLC19A2, SLC19A3, SLC25A4, SPG7, SRD5A3, STT3B, SUCLA2, TACO1, TIMM8A, TK2, TMEM126A, TSFM, TYMP, VARS2, WFS1

Disorders:
3-Methylglutaconic Aciduria Type VII (MGCA7)
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Congenital Disorder of Glycosylation
Spastic Paraplegia 54 (SPG54)
Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)

Source: GeneDx

Retinitis pigmentosa

Targeted genes: ABCA4, ARL2BP, ARL6, BBS1, BEST1, C2orf71, C8orf37, CA4, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GPR125, GUCA1B, IDH3B, IMPDH1, IMPG2, KIAA1549, KLHL7, LRAT, MAK, MERTK, NEK2, NMNAT1, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RDH11, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TUB, TULP1, USH2A, ZNF513

Source: CGC Genetics

Retinitis pigmentosa, AD and X-linked (NGS panel)

Tageted genes (27): BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS

Source: CGC Genetics

Retinitis pigmentosa, AR and X-linked (NGS panel)

Targeted genes (53): ABCA4, ARL2BP, BBS1, BEST1, C2orf71, C8orf37, CERKL, CNGA1, CNGB1, CRB1, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, FLVCR1, GNPTG, GPR125, IDH3B, IMPG2, KIAA1549, LRAT, MAK, MERTK, NEK2, NMNAT1, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RBP4, RDH11, RDH12, RGR, RHO, RLBP1, RP1, RP1L1, RP2, RPE65, RPGR, SAG, SPATA7, TTC8, TUB, TULP1, USH2A, ZNF513

Source: CGC Genetics

Retinitis Pigmentosa/Leber Congenital Amaurosis Panel

Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes
Preferred molecular test for confirming diagnosis of congenital retinal diseases.
Source: Arup Laboratories

Retinitis pigmentosa panel, autosomal dominant

Targeted genes: ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS

Source: Centogene

Retinitis pigmentosa panel, autosomal recessive

Targeted genes: ABCA4, ARL6, BBS1, BEST1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, SEMA4A, SPATA7, TTC8, TULP1, USH2A, ZNF513

Source: Centogene

Retinitis Pigmentosa: Sequencing Panel

Retinitis pigmentosa (RP) is a heterogeneous group of inherited diseases that commonly results in a progressive retinal degeneration. Over 90 forms of RP have been identified. RP can be syndromic or nonsyndromic and can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. RP is characterized by progressive visual field loss, night blindness, and abnormal or nonrecordable electroretinogram (ERG).
Targeted genes: (66) ABCA4, AIPL1, BBS1, BEST1, C1QTNF5, C2orf71, C8orf37, CA4, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513
Source: Emory Genetcis Laboratory

Senior-Loken syndrome (NGS panel)

Targeted genes: CEP290, IQCB1, NPHP1, NPHP4, SDCCAG8

Source: CGC Genetics

Stargardt Disease

Autosomal recessive Stargardt disease is a juvenile-onset macular dystrophy associated with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks around the macula and/or in the central and near-peripheral areas of the retina.
Source: Asper Biotech
Targeted genes: ABCA4, CNGB3, ELOVL4, PROM1

Stargardt disease and macular dystrophy

Targeted genes: ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, IMPG1, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3

Source: CGC Genetics

Stargardt disease panel

Targeted genes: ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3

Source: Centogene

Stargardt Sequencing Panel

Targeted genes: ABCA4, ELOVL4, RDS (PRPH2)

Disorders:
Fundus Flavimaculatus
Macular Dystrophy, Autosomal Recessive
Stargardt Disease

Source: GeneDx

Stickler syndrome (NGS panel)

Targeted genes: COL9A2, COL11A1, COL11A2, COL2A1, COL9A1

Source: CGC Genetics

Stickler Syndrome / High Myopia

Multi Gene Panel (11 Genes)
Targeted genes: COL11A1 COL18A1 COL2A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 FBN1 LEPREL1 VCAN
Source: Medical Genetics Center

Stickler syndrome panel

Targeted genes: COL2A1, COL9A1, COL9A2, COL11A1, COL11A2

Source: Centogene

Usher Syndrome

Usher syndrome is a combination of retinitis pigmentosa and sensorineural hearing loss with or without vestibular dysfunction. Usher syndrome represents 50% of all cases with deafness and blindness. Usher syndrome is inherited in an autosomal recessive manner. Three major clinical types can be distinguished. Usher syndrome type I (USH1) is characterized by severe to profound congenital hearing loss, RP and vestibular areflexia. Patients with Usher syndrome type II (USH2) have moderate to severe hearing loss, RP and normal or variable vestibular function. Patients with Usher syndrome type III (USH3) have progressive hearing loss, RP and variable vestibular function.
Source: Asper Biotech
Targeted genes: ABHD12, CDH23, CIB2, CLRN1, COL4A6, DFNB31, DSPP (excluding exon 5), GIPC3, GPR98, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, USH1G

Usher syndrome

Targeted genes: CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A

Source: CGC Genetics

Usher syndrome panel

Targeted genes: CDH23, CIB2, CLRN1, DFNB31, GPR98, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A

Source: Centogene

Usher Syndrome Panel

Targeted genes: CDH23, CLRN1, DFNB31 (WHRN), GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A

Source: GeneDx

Vitreoretinopathy and Wagner syndrome panel

Targeted genes: COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN

Source: Centogene

X-Linked Retinitis Pigmentosa – XLRP

Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Affected individuals first experience night blindness, followed by reduction of the peripheral visual field and, sometimes, loss of central vision late in the course of the disease and eventually leading to blindness after several decades. Signs and symptoms often first appear in childhood, but severe visual problems do not usually develop until early adulthood. In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over the visual field loss.
Source: Asper Biotech
Targeted genes: OFD1, RP2, RPGR (ORF15 included)


Chandra et al. (2014) Genome-wide association studies: applications and insights gained in Ophthalmology |PubMed |


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