Showing all 20 results

DiseaseModalityDeliveryReferenceData sheet
Progressive external ophthalmoplegia, 1.3, Mitochondrial ataxia SANDO and SCAE, Mitochondrial DNA depletion syndromes Alpers, MNGIE, AD, AR.Detection of large deletions and/or duplications in the mitochondrial genome by MLPA28 daysLV3867
Stargardt SyndromeLarge deletion and duplication detection in theABCA4 gene by MLPA35 daysLV3819
Usher Syndrome and Non-Syndromic DeafnessMutation panel in genes ADGRV1, CDH23CLRN1, DFNB31, MYO7A, PCDH15, USH1C,USH1G, USH1G84 daysLV1297
Progressive external ophthalmoplegia, autosomal dominantNGS and bioinformatic CNVs screening, 10-gene panel: DGUOK, DNA2, POLG, POLG2, RNASEH1, RRM2B, SLC25A4, TK2, TWNK, TYMP49 daysLV4277
Leber congenital amaurosis 10NGS and Sanger Sequencing in the CEP290 gene42 daysLV1748
Congenital Stationary Night BlindnessNGS of 13 gene panel: CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1.ConsultLV3181
Albinism related syndromic and non-syndromic.NGS of 17 gene panel: AP3B1, BLOC1S3, BLOC1S6,C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4,HPS5, HPS6, LYST, OCA2, SLC24A5, SLC45A2,TYR, TYRP1.56 daysLV3477
Vitelliform macular dystrophy, adult-onsetNGS of 2 gene panel: BEST1, PRPH2ConsultLV3185
Leber congenital amaurosis 10NGS of 20 gene panel: AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1.56 daysLV3182
Retinitis pigmentosa (autosomal dominant)NGS of 26 gene panel: 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.56 daysLV3178
Retinitis pigmentosa (X-linked)NGS of 3 gene panel: OFD1, RP2, RPGR.ConsultLV3186
Cone-Rod DystrophyNGS of 32 gene panel: 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, UNC119.56 daysLV3180
Stargardt SyndromeNGS of 4 gene panel: ABCA4, CNGB3, ELOVL4, PROM1.46 daysLV3184
Autosomal Recessive and Sporadic Retinitis PigmentosaNGS of 56 gene panel: 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, ZNF513.63 daysLV3179
Progressive external ophthalmoplegia, autosomal dominantNGS of 7 gene panel: C10ORF2, OPA1, POLG, POLG2,RRM2B, SLC25A4, TYMP42 daysLV2160
Albinism related syndromic and non-syndromic.NGS of 7 gene panel: TYR, OCA2, TY$P1, SLC45A2, SLC24A5, C10orf11, GPR143ConsultLV3183
Hermansky-Pudlak syndromeNGS of 8 gene panel: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS4, HPS5, HPS642 daysLV2983
Retinitis pigmentosa (autosomal dominant)Sanger Sequencing of the RHO geneConsultLV0870
Retinitis pigmentosa (autosomal dominant)Sanger Sequencing of the RP1 geneConsultLV0873
sistemas genómicos
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