- Ophthalmology
Genetic studies are becoming increasingly important to determine the cause of hereditary ophthalmologic diseases, since many of them present overlapping phenotypes. Genetic diagnosis makes it possible to confirm the clinical diagnosis, establish the prognosis and select the most indicated therapy in each case. In addition, it also makes it possible to identify asymptomatic carriers who have not yet developed the disease, but who may very probably develop it in the future.
All genes included in each of our targeted exomes are clinically highly relevant and have been selected from information contained in reference databases such as OMIM, HGMD, ClinVar and HPO, and in the most recent scientific literature.
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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, USH1C, USH1G, USH2A, WHRN
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, 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
CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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, HTRA1, IMPG1, IMPG2, MFSD8, PRDM13, PROM1, PRPH2, RAX2, RP1L1, RPGR, TIMP3, TLR3, TLR4
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
CHST6, COL8A2, DCN, FOXE3, KRT3, KRT12, PIKFYVE, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
AP3D1, 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
CHARACTERISTICS
Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.
Accepted samples
- EDTA blood (1x 5 ml)
- Saliva (specific Isohelix kit)
- Buccal exudate (2x sterile isopes)
- Isolated DNA (>30 ng/μl in >100 μl)
Remember to label each sample with the patient's first and last name or with the identifier used on the request form.
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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, USH1C, USH1G, USH2A, WHRN
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, 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
CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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, HTRA1, IMPG1, IMPG2, MFSD8, PRDM13, PROM1, PRPH2, RAX2, RP1L1, RPGR, TIMP3, TLR3, TLR4
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
CHST6, COL8A2, DCN, FOXE3, KRT3, KRT12, PIKFYVE, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
AP3D1, 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
CHARACTERISTICS
Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.
- Ophthalmology
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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, USH1C, USH1G, USH2A, WHRN
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, 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
CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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, HTRA1, IMPG1, IMPG2, MFSD8, PRDM13, PROM1, PRPH2, RAX2, RP1L1, RPGR, TIMP3, TLR3, TLR4
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
CHST6, COL8A2, DCN, FOXE3, KRT3, KRT12, PIKFYVE, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, ZEB1
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
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
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
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.
AP3D1, 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
CHARACTERISTICS
Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.