Logo-Dreamgenics
Logo-Dreamgenics

Ophthalmology

Genetic studies are becoming increasingly important in determining the cause of inherited ophthalmologic diseases, as many of them have overlapping phenotypes.
Clinical areas
DG Ophthalmology
Hereditary retinal dystrophy
Macular dystrophy
Vitreoretinopathy
Neuro-ophthalmological disorders
Optical malformations
Glaucoma
Albinism
Broader studies
DG Exome®
DG Clinical Exome®
Documentation
Application form
Informed consent
Accepted samples
  • EDTA blood (1x 5 ml)
  • Saliva (specific Isohelix kit)
  • Buccal exudate (2x sterile isopes)
  • gDNA (>30 ng/μl in >100 μl TE buffer)

Remember to label each sample with the patient's first and last name or with the identifier used on the request form.

DG Ophthalmology

ABCA4, ABCC6, ABCD1, ACBD5, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, AGBL5, AHI1, AIPL1, ALMS1, ARHGEF18, ARL2BP, ARL6, ATF6, ATOH7, ATP1A3, ATP8A2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, PCARE, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP78, CEP164, CEP290, CEP41, CERKL, CFAP410, CFAP418, CHM, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, CP, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CTSD, CTSF, CWC27, CYP4V2, DHDDS, DNAJC5, DNML1, DRAM2, ECHS1, EFEMP1, ELOVL4, EXOSC2, EYS, FAM161A, FDXR, FGF8, FGFR1, FKRP, FLVCR1, FZD4, GALC, GALNS, GGCX, GJA1, GNAT1, GNAT2, GNPTG, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCY2D, HARS1, HESX1, HGSNAT, HK1, HMX1, IDH3B, IDS, IDUA, IFT140, IFT172, IFT27, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KIAA0586, KIF11, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MAPKAP3, MCAT, MCOLN1, MECR, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MT-ATP6, MT- ND1 , MT-ND4, MT-ND6, MT-TP, MTRFR, MVK, MYO7A, NBAS, NDP, NDUFS2, NEUROD1, NFIX, NMNAT1, NOD2, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, P3H2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX1, PEX10, PEX12, PEX13, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PLA2G5, PLK4, PNPLA6, POC1B, POMGNT1, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, RNU4ATAC, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SBF2, SCAPER, SDCCAG8, SEMA4A, SIX6, SLC19A2, SLC24A1, SLC25A46, SLC38A8, SLC7A14, SNRNP200, SPATA7, SPG11, SPG7, SRD5A3, SSBP1, TBCE, TCTN2, TIMM8A, TGFBI, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDR19, WDR34, WFS1, WHRN, YME1L1, ZNF408. ACBD5, ADAMTSL1, ADIPOR1, AFG3L2, AHR, AP3B2, AQP4, ARL3, ARMC9, ARSG, ATAD3A, ATP13A2, B3GALNT2, BBIP1, BRAT1, C5AR2, CASK, CDH16, CDK10, CEP250, CFH, CIB2, COL4A6, COL9A2, COL9A3, CTNNA1, DHX38, DNAJC17, DTHD1, EMC1, EPRS1, ESPN, FDX2, FIBP, FSCN2, GDF6, GNB3, GNS, GRID2, GUCA1B, HIKESHI, IFT43, IFT74, IFT80, IFT88, IFT81, ITM2B, KCTD7, KIAA1549, LAMA5, MAG, MFF, MIR-204, MRPS34, MT-TP, MT-TS2, NDUFA13, NEK2, NXNL1, PDZD7, PIK3R4, PITPNM3, PNPT1, POGZ, PRDM13, PSIP1, RAB11B, RAX2, RDH11, RP9, SDHA, SLC25A1, SLC52A2, SON, SPP2, TEAD1, TINF2, TUBA8, TUBB4B, TUBGCP4, TUBGCP6, UNC119, WDPCP, WDR60, ZNF423, ZNF513

Eye disorders and diseases are eye and vision problems. Many of them have a genetic origin and can be present from birth or develop throughout life. The DG Oftalmo targeted exome includes the analysis of 381 genes associated with alterations of the retina, vitreous, choroid and optic nerve, among others.

Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hereditary retinal dystrophy

Retinal dystrophies are a group of diseases that alter the anatomy and/or function of the retina causing a progressive and severe loss of vision. They are clinically and genetically very heterogeneous since the same pathology can be caused by mutations in several genes and, conversely, the same gene can be related to different diseases. In addition, up to 30% of cases are associated with syndromic forms such as Usher syndrome or Bardet-Biedl disease. By means of targeted exomes we approach the study of various forms of retinal dystrophy.

Studies included
ABCA4, ABHD12, ACBD5, ADAM9, ADGRA3, ADGRV1, ADIPOR1, AGBL5, AHI1, AHR, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ATF6, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2CD3, CA4, CABP4, CACNA1F, CACNA2D4, CBY1, CC2D2A, CCDC28B, CDH16, CDH23, CDHR1, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFAP418, CHM, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL18A1, COL2A1, COL4A1, COL4A5, COL4A6, COL8A2, COL9A1, COL9A2, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTNNA1, CTSF, CYP4V2, CWC27, DHCR7, DHDDS, DHX38, DISP1, DNAJC17, DNAJC5, DRAM2, DTHD1, EDN3, EDNRB, ELOVL4, EMC1, ESPN, EXOSC2, EYS, FAM161A, FGF8, FGFR1, FLVCR1, FOXC1, FOXE3, FREM1, FREM2, FSCN2, FZD4, GABRB1, GALC, GAS1, GDF6,GGCX, GIPC3, GJA1, GLI2, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HESX1, HGSNAT, HK1, HMX1, HYLS1, IDH3B, IFT140, IFT172, IFT27, IFT43, IFT74, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KARS1, KATNIP, KCNJ13, KCNV2, KCTD7, KIAA0586, KIAA0753, KIAA1549, KIF7, KIZ, KLHL7, LCA5, LHFPL5, LOXHD1, LRAT, LRIT3, LRP5, LYST, LZTFL1, MAK, MAPKAP3, MC1R, MERTK, MFRP, MFSD8, MITF, MKKS, MKS1, MMACHC, MVK, MYO7A, NDP, NEK2, NEUROD1, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OCA2, OFD1, OTX2, PANK2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHYH, PIBF1, PITPNM3, PITX2, PLA2G5, POC1B, POMGNT1, POMT1, PPT1, PRCD, PROKR2, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PTCH1, RAB28, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, SAG, SBF2, SCAPER, SDCCAG8, SEMA4A, SH3PXD2B, SHH, SIX3, SLC16A12, SLC24A1, SLC24A5, SLC45A2, SLC4A11, SLC4A4, SLC7A14, SNRNP200, SOX2, SOX3, SPATA7, SPP2, SUFU, TCTN1, TCTN2, TCTN3, TEAD1, TGFBI, TGIF1, TIMP3, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TNC, TOGARAM1, TOPORS, TPP1, TRAF3IP1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TTR, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VCAN, WDPCP, WDR19, WFS1, WHRN, ZIC2, ZNF408, ZNF423, ZNF513.
ABCA4, ABHD12, ADGRA3, ADIPOR1, AGBL5, AHR, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, CA4, CACNA1F, CC2D2A, CDH16, CDHR1, CEP290, CERKL, CFAP418, CLRN1, CNGA1, CNGB1, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, DNAJC17, EMC1, EXOSC2, EYS, FAM161A, FLVCR1, FSCN2, GGCX, GNPTG, GUCA1B, HGSNAT, HK1, IDH3B, IFT140, IFT172, IFT43, IMPDH1, IMPG2, KCNJ13, KIAA1549, KIZ, KLHL7, LCA5, LRAT, MAK, MAPKAP3, MERTK, MVK, NEK2, NEUROD1, NR2E3, NRL, OFD1, PANK2, PCARE, PDE6A, PDE6B, PDE6G, PHYH, PLA2G5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SLC24A1, SLC7A14, SNRNP200, SPATA7, SPP2, TEAD1, TOPORS, TRNT1, TTC8, TTPA, TULP1, USH1C, USH2A, WDR19, ZNF408, ZNF513.
ARL3, BEST1, CA4, CRX, FSCN2, GUCA1B, HK1, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RHO, ROM1, RP1, RP9 (PAP1), RPE65, SEMA4A, SNRNP200, SPP2, TOPORS.
ABCA4, ADGRA3, AGBL5, ARL6, ARL2BP, BBS1, BBS2, BEST1, CFAP418, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, HGSNAT, IDH3B, IFT140, IFT172, IMPG2, KIAA1549, KIZ, LRAT, MAK, MERTK, MFRP, MVK, NEK2, NEUROD1, NR2E3, NRL, PCARE, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, RBP3, RGR, RHO, RLBP1, RP1, RPE65, SAG, SPATA7, SLC7A14, TRNT1, TTC8, TULP1, USH2A, ZNF408, ZNF513.
OFD1, RP2, RPGR.
AHI1, AIPL1, ALMS1, CABP4, CEP290, CLUAP1, CRB1, CRX, DTHD1, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, PRPH2, SPATA7, TUBB4B, TULP1.
ABHD12, ADGRV1, ARSG, CDH23, CEP78, CIB2, CLRN1, ESPN, GIPC3, HARS1, KARS1, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH1C, USH1G, USH2A, WHRN.
CHM.
CABP4, CACNA1F, CACNA2D4, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RHO, SAG, SLC24A1, TRPM1.
ABCA4, ADAM9, AIPL1, ALMS1, ATF6, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP250, CEP290, CFAP410, CFAP418, CERKL, CNGA3, CNGB3, CNNM4, CRX, DRAM2, GNAT2, GUCA1A, GUCY2D, IFT81, KCNV2, NMNAT1, OPN1LW, OPN1MW, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, RPGRIP1L, SEMA4A, TLCD3B, TTLL5, UNC119.
ALMS1, RPGRIP1L.
ABCA4, ADAM9, AIPL1, ATF6, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP290, CERKL, CFAP410, CFAP418, CNGA3, CNGB3, CNNM4, CRX, GNAT2, GUCA1A, GUCY2D, IFT81, KCNV2, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, UNC119.
JAG1, NOTCH2.
ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CCDC28B, CEP19, CEP290, CFAP418, GABRB1, IFT172, IFT27, IFT74, LZTFL1, MKKS, MKS1, NPHP1, SCAPER, SDCCAG8, TMEM67, TRIM32, TTC21B, TTC8, WDPCP.
CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1.
AHI1, ARL13B, ARL3, ARMC9, B9D1, B9D2, C2CD3, CBY1, CC2D2A, CEP41, CEP104, CEP120, CEP290, CPLANE1, CSPP1, HYLS1, IFT172, INPP5E, KATNIP, KIAA0586, KIAA0753, KIF7, MKS1, NPHP1, OFD1, PDE6D, PIBF1, POC1B, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM67, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TOGARAM1, TTC21B, ZNF423.
PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6.
ALMS1.
MMACHC.
CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Macular dystrophy

Macular dystrophy is a genetic disease that affects the macula of the retina early and causes its degeneration. It affects both eyes and reveals itself as a yellowish lesion in the macula. We include the study of 38 genes associated with macular dystrophy and the study of Stargardt's disease.

Studies included
ABCA4, APOE, ARMS2, BEST1, C1QTNF5, C2, C3, C9, CDH3, CFB, CFH, CFHR1, CFHR3, CFI, CHST6, CNGB3, CST3, CTNNA1, CX3CR1, DRAM2, ELOVL4, ERCC6, FBLN5, FSCN2, HMCN1, HTRA1, IMPG1, IMPG2, MFSD8, PRDM13, PROM1, PRPH2, RAX2, RP1L1, RPGR, TIMP3, TLR3, TLR4.
ABCA4.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Corneal dystrophy

Corneal dystrophies are a group of rare genetic eye disorders characterized by a loss of transparency of the cornea due to the accumulation of abnormal material in one or more corneal layers that alter its structure and function. Most corneal dystrophies affect both eyes, progress slowly and are transmitted hereditarily. This study involves the analysis of 13 genes related to the development of this ocular alteration.

Studies included
CHST6, COL8A2, DCN, FOXE3, KRT3, KRT12, PIKFYVE, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Vitreoretinopathy

Vitreoretinopathies are a group of pathologies characterized by degeneration of the vitreous humor and retina, the presence of premature cataracts and a high predisposition to suffer retinal detachment. The study of genes associated with different types of vitreoretinopathy is included.

Studies included
ATOH7, BEST1, CAPN5, COL11A1, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CTNNB1, FZD4, KCNJ13, LOXL3, LRP5, NDP, NR2E3, PAK2, STN1, TSPAN12, VCAN, XYLT2, ZNF408.
COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, LOXL3.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Neuro-ophthalmological disorders

Neuro-ophthalmological disorders are those diseases that affect the optic nerve and usually manifest with sudden loss of vision in one or both eyes. They can affect only the visual system or be accompanied by other neurological disorders. We offer the study of various neuro-ophthalmological disorders such as Optic Atrophy or Leber's Optic Neuropathy.

Studies included
ACO2, AFG3L2, CISD2, DNM1L, FDX2, FDXR, MCAT, MFN2, MTRFR, NBAS, NR2F1, OPA1, OPA3, PRPS1, RTN4IP1, SDHA, SLC25A46, SPG7, SSBP1, TIMM8A, TMEM126A, WFS1, YME1L1.
ARNT2, FGFR1, HESX1, OTX2, PAX6, PROKR2, SOX2, SOX3, TUBA8.
MT-ND1, MT-ND4, MT-ND6.
ACO2, ARNT2, DNAJC30, DNM1L, FDXR, FGFR1, FLRT1, HESX1, IBA57,KLC2, MCAT, MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTRFR, NDUFS2, NR2F1, OPA1, OPA3, OTX2, PROKR2, RTN4IP1, SLC52A2, SLC52A3, SOX2, SOX3, TFG, TMEM126A.
MT-TL1, MT-TL2, MT-TN, MT-TS1, POLG, POLG2, RRM2B, SLC25A4, TK2, TWNK.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Optical malformations

Congenital ocular malformations constitute a broad group of alterations of the organogenesis of the eye, which may originate from genetic alterations during embryonic development. Ocular malformations can occur in isolation or as part of a complex genetic syndrome. By means of the different targeted exomes we approach the study of the main ocular congenital anomalies such as microphthalmia, anophthalmia or coloboma.

Studies included
ADAMTSL4, FBN1, LTBP2.
ABCB6, ADAMTS18, ALDH1A3, B3GLCT, BCOR, BMP4, CHD7, COL4A1, COX7B, ERCC2, ERCC5, ERCC6, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, MAB21L2, MFRP, MITF, NAA10, NDP, OCRL, OTX2, PAX6, PORCN, PQBP1, PRSS56, RAB3GAP1, RARB, RAX, RBP4, SHH, SIX3, SIX6, SLC38A8, SMCHD1, SMOC1, SOX2, STRA6, TENM3, TFAP2A, VAX1, VPS13B, VSX2.
BDNF, FOXC1, ITPR1, PAX6, TRIM44, WT1.
CPAMD8, CYP1B1, FOXC1, FOXE3, PAX6, PITX2, PITX3, PXDN, VSX1.
FOXC1, PITX2.
ACTG1, ABCB6, CRIM1, FZD5, PAX6, SALL2.
AGK, ALDH18A1, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, DHCR7, EPHA2, ERCC6, EYA1, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, P3H2, PAX6, PITX3, PXDN, SIL1, SLC16A12, SLC33A1, TDRD7, UNC45B, VIM, WFS1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Glaucoma

Glaucoma is characterized by progressive damage to the optic nerve and irreversible defects in the field of vision. It usually occurs when fluid accumulates in the front part of the eye resulting in elevated intraocular pressure that damages the optic nerve. Our targeted exome for the study of Glaucoma includes the analysis of 52 related to this set of pathologies.

Studies included
ABCB6, ACTG1, ACVR1, ADAMTS10, ALDH1A3, ASB10, B3GLCT, BEST1, CANT1, COL18A1, COL8A2, CPAMD8, CRB1, CRPPA, CYP1B1, EFEMP1, FOXC1, FOXE3, FZD5, GRHL2, LMX1B, LOXL1, LTBP2, MFRP, MYOC, NDP, NTF4, OPTN, OTX2, OVOL2, PAX6, PITX2, PITX3, POMT1, RPS19, PRSS56, RAX, RS1, RRM2B, SALL2, SBF2, SH3PXD2B, SIX6, SOX2, SLC4A4, TEK, TMEM98, TRIM44, TTR, VSX1, WDR36, ZEB1.
ABCB6, ACTG1, ALDH1A3, B3GLCT, BEST1, COL8A2, CPAMD8, CRB1, CYP1B1, EFEMP1, FOXC1, FOXE3, FZD5, GRHL2, LTBP2, MFRP, MYOC, NDP, OTX2, OVOL2, PAX6, PITX2, PRSS56, RAX, RS1, SALL2, SIX6, SOX2, TEK, TMEM98, TRIM44, VSX1, ZEB1.
CYP1B1, LTBP2, MYOC, TEK.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Albinism

The term Albinism refers to a group of inherited disorders in which there is little or no production of the pigment melanin resulting in an absence of skin, hair and eye coloration. We offer a general targeted exome for the study of these disorders, as well as the study of the genes associated with oculocutaneous albinism and Hermansky-Pudlak syndrome.

Studies included
AP3D1, GPR143, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MLPH, MYO5A, RAB27A.
DCT, GPR143, LRMDA, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1.
AP3B1, AP3D1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days