| Common test of all diseases | Chromosome X inactivation analysis | 28 days | LV0222 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome trio with report of clinicallyrelevant findings | 56 days | LV3245 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome duo with report of clinicallyrelevant findings | 56 days | LV3246 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome reanalysis | Consult | LV4169 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome single with report of clinicallyrelevant findings | 56 days | LV3247 | +Info |
| Ocular Pharyngeal Muscular Dystrophy | Detection of CGC expansion in the PABPN1 gene | 28 days | LV0327 | +Info |
| Incontinentia Pigmenti | Detection of deletion in the IKBKG gene | 28 days | LV0221 | +Info |
| Anterior segment anomalies with or without cataract | Detection of deletions and duplications in the EYA1 gene by MLPA | 28 days | LV4183 | +Info |
| Branchiootorenal syndrome 1, with or without cataracts | Detection of deletions and duplications in the EYA1 gene by MLPA | 28 days | LV4183 | +Info |
| Albinism, Oculo-cutaneous type II | Detection of deletions and duplications in the OCA2 gene by MLPA | 28 days | LV2301 | +Info |
| Mucopolysaccharidosis Type II | Detection of deletions and/or duplications in IDS gene by MLPA | 28 days | LV2513 | +Info |
| Deafness, autosomal recessive 23 | Detection of deletions and/or duplications in PCDH15 gene by MLPA | 28 days | LV2476 | +Info |
| Usher syndrome, type 1F | Detection of deletions and/or duplications in PCDH15 gene by MLPA | 28 days | LV2476 | +Info |
| Aniridia | Detection of deletions and/or duplications in the PAX6 and WT1 genes by MLPA | 28 days | LV2674 | +Info |
| Retinitis Pigmentosa | Detection of deletions and/or duplications in USH2A gene by MLPA | 42 days | LV3109 | +Info |
| Stickler syndrome, types I, II | Detection of deletions and/or duplications inCOL11A1 and COL2A1 genes by MLPA | 42 days | LV2898 | +Info |
| Norrie disease | Detection of deletions and/or duplicationsin NDP gene by MLPA | 28 days | LV3039 | +Info |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | Detection of deletions and/or duplicationsin POMT1 gene by MLPA | 28 days | LV2972 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Detection of deletions/duplications in the AGXT, GRHPR genes by MLPA | 28 days | LV4201 | +Info |
| Optic atrophy 1 | Detection of deletions/duplications in the OPA1 gene by MLPA | 28 days | LV4120 | +Info |
| Capillary and Arteriovenous Malformations | Detection of large delections orduplications in RASA1 gene by MLPA | 28 days | LV3612 | +Info |
| Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | Detection of large deletions / duplications inthe CYP1B1 gene by MLPA | 28 days | LV3231 | +Info |
| Blepharophimosis, Ptosis and Epicanthus Inversus; BPES | Detection of large deletions and/ or duplicationsin the FOXL2 gene by MLPA | 28 days | LV2169 | +Info |
| Saethre-Chotzen syndrome | Detection of large deletions and/or duplications in the TWIST1 gene by MLPA | 28 days | LV2247 | +Info |
| Axenfeld-Rieger Syndrome | Detection of large deletions and/or duplications in FOXC1 gene by MLPA | 28 days | LV1567 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | Detection of large deletions and/or duplications in the COL3A1 gene by MLPA | 28 days | LV0889 | +Info |
| Alport syndrome | Detection of large deletions and/or duplications in the COL4A4 gene by MLPA | 28 days | LV3275 | +Info |
| Ocular Albinism type 1 | Detection of large deletions and/or duplications in the GPR143 gene by MLPA | 28 days | LV2275 | +Info |
| 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 MLPA | 28 days | LV3867 | +Info |
| Alport syndrome | Detection of large deletions and/or duplicationsin the COL4A3 gene by MLPA | 28 days | LV3274 | +Info |
| Alport Syndrome, X-linked | Detection of large deletions and/or duplicationsin the COL4A5 gene by MLPA | 28 days | LV0987 | +Info |
| Marfan syndrome | Detection of large deletions and/orduplications in the FBN1 gene by MLPA | 28 days | LV1575 | +Info |
| Neuropathy, Ataxia and Retinitis Pigmentosa | Detection of mutations 8993T>G and 8993T>C in the mitochondrial gene MT-ATP6 | Consult | LV0229 | +Info |
| Leber Hereditary Optic Neuropathy (LHON) | Detection of mutations m.3460G>A , m.11778G>A, m.14484T>C, m.14482C>G, m.14495A>G,m.14498T>C, m.14596A>T in the mitochondrial | 28 days | LV0231 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed CLINICAL EXOME up to 200 genes with diagnostic report (capture of 58Mb) | 42 days | LV4152 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed KEY EXOME up to 200 genes with diagnostic report (capture of 17Mb) | 42 days | LV4150 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed CLINICAL EXOME to CLINICAL EXOME with diagnostic report (capture of 58Mb) | 42 days | LV4132 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed KEY EXOME to Clinical KEY EXOME with diagnostic report (capture of 17Mb) | 42 days | LV4135 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of exome analysis to relevantvariants located in research genes. | 42 days | LV3607 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother and father without report. | 28 days | LV4125 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother or father without report. | 28 days | LV4124 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, without report. | 28 days | LV4123 | +Info |
| Common test of all diseases | Genetic counseling consultation | Consult | LV0033 | +Info |
| Genetic Linkage Analysis | Haplotypes analysis (includes three familymembers and four genetic markers) | Consult | LV0036 | +Info |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
| Stargardt Syndrome | Large deletion and duplication detection in theABCA4 gene by MLPA | 35 days | LV3819 | +Info |
| Congenital Catarcts | Large deletions and duplications detection in theGEMIN4 gene by MLPA | 35 days | LV3763 | +Info |
| Medullary thyroid carcinoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Microphthalmia, syndromic 3 | Large deletions and duplications detection in theSOX2 gene by MLPA | 35 days | LV3468 | +Info |
| Optic nerve hypoplasia and abnormalities of the central nervous system | Large deletions and duplications detection in theSOX2 gene by MLPA | 35 days | LV3468 | +Info |
| Stickler type I Syndrome (achondrogenesis type I) | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Pseudohypoparathyroidism Ib | Methylation analysis and detectionof deletions and/or duplicationsin 20q13.32 GNAS region by MLPA | 35 days | LV2915 | +Info |
| Usher Syndrome and Non-Syndromic Deafness | Mutation panel in genes ADGRV1, CDH23CLRN1, DFNB31, MYO7A, PCDH15, USH1C,USH1G, USH1G | 84 days | LV1297 | +Info |
| Stickler type I Syndrome (achondrogenesis type I) | Next Generation Sequencing and Sanger Sequencing of the COL11A1 gene | 28 days | LV0950 | +Info |
| Pseudohypoparathyroidism Type IA / Pseudopseudohypoparathyroidism | Next Generation Sequencing and Sanger Sequencing of the GNAS gene | 28 days | LV1427 | +Info |
| Ataxia-oculomotor apraxia 2 | Next Generation Sequencing and Sanger Sequencing of the SETX gene | 42 days | LV1357 | +Info |
| Autosomal Recessive and Sporadic Retinitis Pigmentosa | Next Generation Sequencing and Sanger Sequencing of the USH2A gene | 42 days | LV1446 | +Info |
| Usher Syndrome Type 2A | Next Generation Sequencing and Sanger Sequencing of the USH2A gene | 42 days | LV1446 | +Info |
| Marshall syndrome, Weissenbacher-Zweymuller syndrome, Knobloch syndrome, type 1, Kniest dysplasia, Wagner syndrome 1, | Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, COL18A1, VCAN | 42 days | LV2185 | +Info |
| Stickler syndrome, types I, II, III, AD, Stickler syndrome, type I, nonsyndromic, ocular, Stickler syndrome, type IV, V AR, | Next Generation Sequencing of 6 gene panel:COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 | 42 days | LV3811 | +Info |
| Alport syndrome | NGS + Sanger sequencing of the COL4A4 gene | 42 days | LV2892 | +Info |
| Alport Syndrome, X-linked | NGS + Sanger sequencing of the COL4A5 gene | 42 days | LV2889 | +Info |
| Leiomyomatosis, diffuse, with Alport syndrome | NGS + Sanger sequencing of the COL4A6 gene | 42 days | LV2891 | +Info |
| Retinitis Pigmentosa | NGS and bioinformatic CNV screening of the ABCA4 gene | 35 days | LV4206 | +Info |
| Progressive external ophthalmoplegia, autosomal dominant | NGS and bioinformatic CNVs screening, 10-gene panel: DGUOK, DNA2, POLG, POLG2, RNASEH1, RRM2B, SLC25A4, TK2, TWNK, TYMP | 49 days | LV4277 | +Info |
| Capillary and Arteriovenous Malformations | NGS AND Sanger sequencing of the RASA1 gene | 42 days | LV3110 | +Info |
| Ectopia lentis, familial | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Marfan syndrome | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Usher syndrome, type 1D | NGS and Sanger Sequencing in the CDH23 gene | 42 days | LV1746 | +Info |
| Leber congenital amaurosis 10 | NGS and Sanger Sequencing in the CEP290 gene | 42 days | LV1748 | +Info |
| Stickler type I Syndrome (achondrogenesis type I) | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | NGS and Sanger Sequencing of the COL3A1 gene | 42 days | LV2264 | +Info |
| Usher syndrome, type 1B | NGS and Sanger Sequencing of the MYO7A gene | 42 days | LV1972 | +Info |
| Deafness, autosomal recessive 23 | NGS and Sanger Sequencing of the PCDH15 gene | 42 days | LV1989 | +Info |
| Usher syndrome, type 1F | NGS and Sanger Sequencing of the PCDH15 gene | 42 days | LV1989 | +Info |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome; Polymicrogyria (P) bilateral frontoparietal; P. symmetric or asymmetric; P. with seizures; P. with optic nerve hypoplasia; | NGS of 10 gene panel: ADGRG1, AKT3, DYNC1H1, HEPACAM, OCLN, PIK3R2, RTTN, TUBA8, TUBB2B, TUBB3 | 42 days | LV2981 | +Info |
| Congenital Stationary Night Blindness | NGS of 13 gene panel: CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1. | Consult | LV3181 | +Info |
| 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 days | LV3477 | +Info |
| Vitelliform macular dystrophy, adult-onset | NGS of 2 gene panel: BEST1, PRPH2 | Consult | LV3185 | +Info |
| Optic Atrophy, autosomal dominant | NGS of 2 gene panel: OPA1, OPA3 | 42 days | LV3177 | +Info |
| Leber congenital amaurosis 10 | NGS 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 days | LV3182 | +Info |
| 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 days | LV3178 | +Info |
| Retinitis pigmentosa (X-linked) | NGS of 3 gene panel: OFD1, RP2, RPGR. | Consult | LV3186 | +Info |
| Cone-Rod Dystrophy | NGS 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 days | LV3180 | +Info |
| Stargardt Syndrome | NGS of 4 gene panel: ABCA4, CNGB3, ELOVL4, PROM1. | 46 days | LV3184 | +Info |
| Autosomal Recessive and Sporadic Retinitis Pigmentosa | NGS 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 days | LV3179 | +Info |
| Blepharophimosis (B), epicanthus inversus, and ptosis; B-ptosis-intellectual disability syndrome; Say-Barber-Biesecker-Young-Simpson; Genitopatellar; Ohdo; Smith-Lemli-Opitz; Baraitser-Winter syn | NGS of 7 gene panel: ACTB, ACTG1, DHCR7, FOXL2, KAT6B, MED12, UBE3B | 42 days | LV2996 | +Info |
| Microphthalmia, syndromic; Optic nerve hypoplasia and abnormalities of the central nervous system; Chondrodysplasia with platyspondyly, hydrocephaly, and microphthalmia; Cerebellar ataxia wit | NGS of 7 gene panel: BCOR, HCCS, SOX2, STRA6, TUBA8, ZNF592, PAX6 | 42 days | LV2992 | +Info |
| Progressive external ophthalmoplegia, autosomal dominant | NGS of 7 gene panel: C10ORF2, OPA1, POLG, POLG2,RRM2B, SLC25A4, TYMP | 42 days | LV2160 | +Info |
| Albinism related syndromic and non-syndromic. | NGS of 7 gene panel: TYR, OCA2, TY$P1, SLC45A2, SLC24A5, C10orf11, GPR143 | Consult | LV3183 | +Info |
| Hermansky-Pudlak syndrome | NGS of 8 gene panel: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS4, HPS5, HPS6 | 42 days | LV2983 | +Info |
| Axenfeld-Rieger; Otopalatodigital; Velocardiofacial; Speech-language disorder-1; Orofacial cleft 7; Orofaciodigital syndrome; Branchiooculofacial, syndromes | NGS of 8 gene panel: FOXC1, PITX2, FLNA, TBX1, FOXP2, PVRL1, TCTN3, TFAP2A | 42 days | LV3010 | +Info |
| Ceroid lipofuscinosis | NGS of 10 gene panel: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1. | 42 days | LV3515 | +Info |
| Congenital disorder of glycosylation, type II and Wrinkly skin syndrome | NGS of 10 gene panel: ATP6V0A2, B4GALT1, COG1, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35C1, TUSC3 | 42 days | LV3514 | +Info |
| Mucopolysaccharidosis types: Morquio, Scheie, Hurler, Hurler-Scheie, Maroteaux¦Lamy, Sly, Sanfilippo A, B, C, D, Hunter y IX. | NGS of 11 gene panel: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH. | 42 days | LV3498 | +Info |
| Lysosomal metabolic disorders: Aspartylglucosaminuria, Cystinosis, Galactosialidosis, Cerebral creatine deficiency, Sialuria, Malonyl-CoA decarboxylase deficiency, Mevalonic acid | NGS of 12 gene panel: AGA, CTNS, CTSA, GAMT, GATM, GNE, MLYCD, MVK, SLC17A5, SLC6A8, SUMF1, XDH | 42 days | LV3502 | +Info |
| Phospholipid disorders: PHARC, MNGIE TYPE, Sjogren-Larsson, Neurodegeneration with brain iron accumulation, Spastic paraplegia, GM3 synthase deficiency, HSAN1, Myoglobinur | NGS of 14 gene panel: ABHD12, ABHD5, AGK, CHKB, ELOVL4, FA2H, LPIN1, PANK2, PLA2G6, PNPLA6, ST3GAL5, SPTLC1, SPTLC2, TAZ | 42 days | LV3506 | +Info |
| Peroxisome biogenesis disorder, Adrenoleukodystrophy, Refsum disease neonatal e infantil, Rhizomelic chondrodysplasia punctata 1 | NGS of 15 gene panel: ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7. | 42 days | LV3508 | +Info |
| Congenital disorder of glycosylation, type I | NGS of 15 gene panel: ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1, SRD5A3. | 42 days | LV3513 | +Info |
| Sphingolipidosis: Gaucher, Metachromatic leukodystrophy, Krabbe, Niemann Pick, Fabry, Tay-Sachs, Sandhoff, Gangliosidosis, Farber, Wolman. | NGS of 17 gene panel: ARSA, ASAH1, GALC, GBA, GBA2, GBA3, GLA, GLB1, GM2A, HEXA, HEXB, LIPA, NAGA, NPC1, PSAP, SCARB2, SMPD1. | 42 days | LV3499 | +Info |
| Progressive External Ophthalmoplegia (PEO) and Optic Atrophy | NGS of 23 gene panel: ACO2, AUH, C10ORF2 , DNA2, C12ORF65, CISD2, MFN2, MTPAP, NDUFS1, OPA1, OPA3, POLG, POLG2, REEP1, RRM2B, SLC19A3, SLC25A4, SPG7, TIMM8A, TK2, TMEM126A, TYMP, WFS1 | 42 days | LV3255 | +Info |
| Defects ?-oxidation of fatty acids: Refsum disease, Phytanoyl-CoA hydroxilase | NGS of 2 gene panel: PHYH, PEX7. | 42 days | LV3511 | +Info |
| Griscelli syndrome | NGS of 3 gene panel: MLPH, MYO5A, RAB27A | 42 days | LV3504 | +Info |
| Ichthyosis, neurological disorder, and skeletal dysplasia and Papillon Lefevre | NGS of 4 gene panel: ABHD5, ALDH3A2, CTSC, ELOVL4. | 42 days | LV3507 | +Info |
| Hyperoxaluria, Acatalasemia, Mulibrey syndrome, defective mitochondrial peroxisomal fission. | NGS of 5 gene panel: AGXT, CAT, DNM1L, SOD1, TRIM37, | 42 days | LV3512 | +Info |
| Glycoproteinosis, fucosidosis, Mannosidosis, Gklycogenosis type 2 | NGS of 5 gene panel: FUCA1, GAA, LAMP2, MAN2B1, MANBA | 42 days | LV3505 | +Info |
| Lysosomal bone disorders: Geleophysic dysplasia, Otospondylomegaepiphyseal dysplasia, Pycnodysostosis, Smith-McCort dysplasia, | NGS of 6 gene panel: ADAMTSL2, COL11A2, COL2A1, CTSK, DYM, RAB33B. | 42 days | LV3501 | +Info |
| Loeys-Dietz Syndrome | NGS of a 5-gene panel: SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 42 days | LV3970 | +Info |
| Retinoblastoma | NGS of the RB1 gene | 28 days | LV3648 | +Info |
| Lysosomal syndromes: Chediak-Higashi, Smith Lemli Opitz, Simpson Golabi, Kabuki, Griscelli, Smith Magenis, Pitt Hopkins. | NGS of 12 gene panel: DHCR7, GPC3, KDM6A, KMT2D, LAMP1, LYST, MLPH, MYO5A, OFD1, RAB27A, RAI1, TCF4, | 42 days | LV3503 | +Info |
| Rhizomelic chondrodysplasia punctata | NGS of 4 gene panel: AGPS, GNPAT, PEX5, PEX7. | 42 days | LV3509 | +Info |
| Mucolipidosis, Sialidosis. | NGS of 4 gene panel: GNPTAB, GNPTG, MCOLN1, NEU1 | 42 days | LV3500 | +Info |
| Aniridia | Sanger Sequencing and MLPA of the PAX6 gene | 56 days | LV0570 | +Info |
| Sjogren-Larsson, Syndrome | Sanger Sequencing of ALDH3A2 gene | 46 days | LV2280 | +Info |
| Achromatopsia-3 | Sanger Sequencing of CNGB3 gene | 49 days | LV2372 | +Info |
| Chanarin-Dorfman syndrome | Sanger sequencing of the ABHD5 gene | 35 days | LV4109 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Sanger sequencing of the AGXT gene | 53 days | LV3674 | +Info |
| Alstrom syndrome | Sanger Sequencing of the ALMS1 gene | 84 days | LV2331 | +Info |
| Primary Congenital Glaucoma | Sanger sequencing of the ANGPT1 gene | 56 days | LV4327 | +Info |
| Ataxia-oculomotor apraxia 1 | Sanger sequencing of the APTX gene | Consult | LV1356 | +Info |
| Diabetes insipidus, nephrogenic autosomal recessive | Sanger Sequencing of the AQP2 gene | 28 days | LV3095 | +Info |
| Mucopolysaccharidosis Type VI | Sanger Sequencing of the ARSB gene | 28 days | LV0974 | +Info |
| Bohring Opitz syndrome | Sanger Sequencing of the ASXL1 gene | 46 days | LV2916 | +Info |
| Peters-plus syndrome | Sanger Sequencing of the B3GLCT gene | 42 days | LV2514 | +Info |
| Bardet-Biedl Syndrome | Sanger Sequencing of the BBS1 gene | 42 days | LV0843 | +Info |
| Bardet-Biedl type 10, Syndrome | Sanger Sequencing of the BBS10 gene | 42 days | LV0856 | +Info |
| Biotinidase deficiency | Sanger sequencing of the BTD gene | 32 days | LV2672 | +Info |
| Hypomagnesemia 3, renal | Sanger Sequencing of the CLDN16 gene | Consult | LV2459 | +Info |
| Hypomagnesemia 5, renal, with ocular involvement | Sanger Sequencing of the CLDN19 gene | Consult | LV3098 | +Info |
| Corneal dystrophy polymorphous posterior, 2 | Sanger Sequencing of the COL8A2 gene | Consult | LV2583 | +Info |
| Corneal dystrophy, Fuchs endothelial, 1 | Sanger Sequencing of the COL8A2 gene | Consult | LV2583 | +Info |
| Methemoglobinemia, type I, II | Sanger sequencing of the CYB5R3 gene | Consult | LV2887 | +Info |
| Primary Congenital Glaucoma | Sanger Sequencing of the CYP1B1 gene | 28 days | LV1100 | +Info |
| Leukodystrophy, hypomyelinating, 5 | Sanger Sequencing of the FAM126A gene. | Consult | LV2928 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the FOXC1 gene | 35 days | LV1697 | +Info |
| Blepharophimosis, Ptosis and Epicanthus Inversus; BPES | Sanger Sequencing of the FOXL2 | 35 days | LV2168 | +Info |
| Congenital Nystagmus X-linked | Sanger Sequencing of the FRMD7 gene | 126 days | LV0754 | +Info |
| Hyperferritinemia Cataract Syndrome | Sanger Sequencing of the FTL gene (IRE region) | 28 days | LV1186 | +Info |
| Mucopolysaccharidosis Type IVA | Sanger Sequencing of the GALNS gene | 56 days | LV1343 | +Info |
| Gaucher disease | Sanger Sequencing of the GBA gene | 46 days | LV2300 | +Info |
| Congenital Catarcts | Sanger sequencing of the GEMIN4 gene | 53 days | LV3762 | +Info |
| Ocular Albinism type 1 | Sanger sequencing of the GPR143 gene | 56 days | LV0554 | +Info |
| Mucopolysaccharidosis Type II | Sanger Sequencing of the IDS gene | Consult | LV1152 | +Info |
| Mucopolysaccharidosis I | Sanger Sequencing of the IDUA gene | 35 days | LV3108 | +Info |
| Incontinentia Pigmenti | Sanger sequencing of the IKBKG gene | 56 days | LV1460 | +Info |
| Cornea plana 2 | Sanger sequencing of the KERA gene | 32 days | LV3776 | +Info |
| Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | Sanger Sequencing of the LIFR gene | 49 days | LV1919 | +Info |
| Exudative vitreoretinopathy 4 | Sanger Sequencing of the LRP5 gene | 42 days | LV1929 | +Info |
| 3MC syndrome 1 | Sanger Sequencing of the MASP1 gene | 42 days | LV1940 | +Info |
| Bardet-Biedl type 6, Syndrome | Sanger Sequencing of the MKKS gene | 35 days | LV0912 | +Info |
| Glaucoma 1A, primary open angle | Sanger Sequencing of the MYOC gene | Consult | LV2970 | +Info |
| Norrie disease | Sanger Sequencing of the NDP gene | 42 days | LV0538 | +Info |
| Nance-Horan syndrome | Sanger Sequencing of the NHS gene | 35 days | LV2469 | +Info |
| Albinism, Oculo-cutaneous type II | Sanger Sequencing of the OCA2 gene | 42 days | LV0537 | +Info |
| Lowe syndrome | Sanger Sequencing of the OCRL gene | 42 days | LV0338 | +Info |
| Microphthalmia, syndromic 5 | Sanger Sequencing of the OTX2 gene. | 42 days | LV2516 | +Info |
| Peters Anomaly | Sanger Sequencing of the PAX6 gene | 56 days | LV0572 | +Info |
| Borjeson-Forssman-Lehmann syndrome | Sanger Sequencing of the PHF6 gene | 35 days | LV2336 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the PITX2 gene | 35 days | LV2312 | +Info |
| Congenital disorder of glycosylation, type Ia | Sanger Sequencing of the PMM2 gene | Consult | LV1283 | +Info |
| Retinitis Pigmentosa | Sanger Sequencing of the PRPH2 gene | 28 days | LV0872 | +Info |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Retinitis pigmentosa (autosomal dominant) | Sanger Sequencing of the RHO gene | Consult | LV0870 | +Info |
| Aicardi-Goutieres syndrome 2 | Sanger Sequencing of the RNASEH2B gene | 49 days | LV2311 | +Info |
| Aicardi-Goutieres syndrome 3 | Sanger Sequencing of the RNASEH2C gene | 28 days | LV2310 | +Info |
| Retinitis pigmentosa (autosomal dominant) | Sanger Sequencing of the RP1 gene | Consult | LV0873 | +Info |
| Retinitis Pigmentosa | Sanger Sequencing of the RP2 gene | Consult | LV0874 | +Info |
| Retinitis Pigmentosa | Sanger Sequencing of the RPE65 gene | 42 days | LV0871 | +Info |
| X-linked Retinoschisis | Sanger Sequencing of the RS1 gene | 42 days | LV0006 | +Info |
| Coloboma, ocular, autosomal recessive | Sanger sequencing of the SALL2 gene | 32 days | LV3623 | +Info |
| Marinesco-Sjogren syndrome | Sanger Sequencing of the SIL1 gene | 35 days | LV2470 | +Info |
| Shprintzen-Goldberg syndrome | Sanger Sequencing of the SKI gene | 35 days | LV2308 | +Info |
| Microphthalmia, syndromic 3 | Sanger Sequencing of the SOX2 gene | 28 days | LV3175 | +Info |
| Optic nerve hypoplasia and abnormalities of the central nervous system | Sanger Sequencing of the SOX2 gene | 28 days | LV3175 | +Info |
| Camurati-Engelmann disease | Sanger Sequencing of the TGFB1 gene | 42 days | LV3099 | +Info |
| Corneal dystrophy, epithelial basement membrane | Sanger sequencing of the TGFBI gene | 49 days | LV3038 | +Info |
| Loeys-Dietz Syndrome, type 1A | Sanger sequencing of the TGFBR1 gene | 42 days | LV0798 | +Info |
| Loeys-Dietz Syndrome | Sanger Sequencing of the TGFBR2 gene | 42 days | LV0283 | +Info |
| Aicardi-Goutieres syndrome 1, dominant and recessive | Sanger Sequencing of the TREX1 gene | 28 days | LV2309 | +Info |
| Saethre-Chotzen syndrome | Sanger Sequencing of the TWIST1 gene | 42 days | LV0734 | +Info |
| Albinism, Oculo-cutaneous type 1A | Sanger Sequencing of the TYR gene | 42 days | LV0166 | +Info |
| Albinism, Oculo-cutáneous type 1B | Sanger Sequencing of the TYR gene | 42 days | LV0166 | +Info |
| Usher syndrome, type 1C | Sanger Sequencing of the USH1C gene | 42 days | LV2090 | +Info |
| Wagner syndrome | Sanger Sequencing of the VCAN gene | 35 days | LV2644 | +Info |
| Von Hipel Lindau syndrome | Sanger sequencing of the VHL gene | 42 days | LV0420 | +Info |
| Wolfram syndrome | Sanger Sequencing of the WFS1 gene | 42 days | LV2116 | +Info |
| Sorsby fundus dystrophy | Sanger sequencing of TIMP3 gene | 35 days | LV3895 | +Info |
| Confirmation of the effect of Specific Mutation in mRNA | Sequencing of a specific fragment of complementary DNA corresponding to messenger RNA by RT-PCR | 56 days | LV1682 | +Info |
| Neuropathy, Hereditary Sensory and Autonomic, type V | Sequencing of the NGF gene | Consult | LV2252 | +Info |
| Common test of all diseases | Study of prenatal maternal contamination | Consult | LV1140 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted clinical exome (duo) | 56 days | LV3755 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted clinical exome (trio) | 56 days | LV3756 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted exome up to 200 genes | 56 days | LV3754 | +Info |
| Loeys-Dietz Syndrome | TGFBR1 and TGFBR2 large deletions and duplicationsdetection by MLPA | 35 days | LV3373 | +Info |
