| 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 |
| Bartter syndrome type 3 | Detection of deletions and duplications in the CLCNKB gene by MLPA | 28 days | LV3849 | +Info |
| Anterior segment anomalies with or without cataract | Detection of deletions and duplications in the EYA1 gene by MLPA | 28 days | LV4183 | +Info |
| Branchiootic syndrome 1 | 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 |
| Otofaciocervical sindrome | Detection of deletions and duplications in the EYA1 gene by MLPA | 28 days | LV4183 | +Info |
| Deafness, nonsyndromic sensorineural autosomal recessive (DFNB1) | Detection of deletions and duplications in the GJB2 and GJB6 genes by MLPA | 28 days | LV1541 | +Info |
| Waardenburg syndrome | Detection of deletions and duplications in the MITF, PAX3 and SOX10 genes by MLPA | 28 days | LV3921 | +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 |
| Pendred Syndrome | Detection of deletions and/or duplications in SLC26A4 gene by MLPA | 28 days | LV3087 | +Info |
| Stickler syndrome, types I, II | Detection of deletions and/or duplications inCOL11A1 and COL2A1 genes by MLPA | 42 days | LV2898 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Detection of deletions/duplications in the AGXT, GRHPR genes by MLPA | 28 days | LV4201 | +Info |
| Axenfeld-Rieger Syndrome | Detection of large deletions and/or duplications in FOXC1 gene by MLPA | 28 days | LV1567 | +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 |
| Coffin-Lowry syndrome | Detection of large deletions and/or duplications in the RPS6KA3 gene by MLPA | 28 days | LV1537 | +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 |
| Craniofacial-deafness-hand syndrome | Detection of large deletions and/or duplicationsin the PAX3 gene by MLPA | 28 days | LV3536 | +Info |
| Treacher Collins syndrome | Detection of large deletions and/or duplicationsin the TCOF1 gene by MLPA | 28 days | LV1549 | +Info |
| MELAS syndrome | Detection of mutations 12770A>G, 13045A>C, c.1308484A>T, 13513G>A and 13514A>G in the MT-ND5 mitochondrial gene | 28 days | LV0438 | +Info |
| MELAS syndrome | Detection of mutations 3243A>G, 3271T>C and 3252A>G in the mitochondrial gene MT-TL1 | 28 days | LV0241 | +Info |
| MERRF syndrome | Detection of mutations 8344A>G, 8356T>C and 8363G>A in the mitochondrial gene MT-TK | 28 days | LV0242 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| Nonsyndromic Mitochondrial Hearing Loss and Deafness | Detection of the m.1555A>G mutation in the mitochondrial gene MT-RNR1 | 28 days | LV0249 | +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 |
| Trichorhinophalangeal syndrome, type I | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +Info |
| Epiphyseal dysplasia, multiple, with myopia and deafness | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Usher Syndrome and Non-Syndromic Deafness | Mutation panel in genes ADGRV1, CDH23CLRN1, DFNB31, MYO7A, PCDH15, USH1C,USH1G, USH1G | 84 days | LV1297 | +Info |
| Deafness, Autosomal Recessive 53 | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant type 13 | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Otospondylomegaepiphyseal dysplasia | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Stickler syndrome, type III | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Weissenbacher-Zweymuller syndrome | Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene | 42 days | LV1448 | +Info |
| Epstein syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Fechtner syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Macrothrombocytopenia and progressive sensorineural deafness | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| May-Hegglin anomaly | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Sebastian syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Deafness, nonsyndromic sensorineural autosomal recessive type 21 | Next Generation Sequencing and Sanger Sequencing of the TECTA gene | 28 days | LV1451 | +Info |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant 8/12 | Next Generation Sequencing and Sanger Sequencing of the TECTA gene | 28 days | LV1451 | +Info |
| Usher Syndrome Type 2A | Next Generation Sequencing and Sanger Sequencing of the USH2A gene | 42 days | LV1446 | +Info |
| Jervell-Lange-Nielsen syndrome | Next Generation Sequencing of 2 gene panel: KCNE1, KCNQ1. | 42 days | LV1545 | +Info |
| 3MC types 1 and 2; Craniofacial-deafness-hand syndrome, Waardenburg type 3. | Next Generation Sequencing of 3 gene panel: COLEC11, MASP1, PAX3. | 42 days | LV2188 | +Info |
| Hearing loss secondary to kidney diseases | Next Generation Sequencing of 3 gene panel: BSND, GATA3, MYH9. | 42 days | LV1544 | +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, autosomal recessive | NGS + Sanger sequencing of the COL4A3 gene | 42 days | LV2890 | +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 |
| Neurofibromatosis, type 1 | NGS and bioinformatic CNVs screening, 2-gene panel: NF1, NF2 | 35 days | LV4360 | +Info |
| Neurofibromatosis, type 2 | NGS and bioinformatic CNVs screening, 2-gene panel: NF1, NF2 | 35 days | LV4360 | +Info |
| Deafness, autosomal recessive 12 | NGS and Sanger Sequencing in the CDH23 gene | 42 days | LV1746 | +Info |
| Usher syndrome, type 1D | NGS and Sanger Sequencing in the CDH23 gene | 42 days | LV1746 | +Info |
| Epiphyseal dysplasia, multiple, with myopia and deafness | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Deafness, autosomal dominant 10 | NGS and Sanger Sequencing of the EYA4 gene | 42 days | LV1845 | +Info |
| Deafness, autosomal recessive 77 | NGS and Sanger Sequencing of the LOXHD1 gene | 42 days | LV1925 | +Info |
| Deafness, autosomal recessive 3 | NGS and Sanger Sequencing of the MYO15A gene | 42 days | LV1966 | +Info |
| Deafness, autosomal recessive 30 | NGS and Sanger Sequencing of the MYO3A gene | 42 days | LV1968 | +Info |
| Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy | NGS and Sanger Sequencing of the MYO6 gene | 42 days | LV1969 | +Info |
| Deafness, autosomal dominant 22 | NGS and Sanger Sequencing of the MYO6 gene | 42 days | LV1969 | +Info |
| Deafness, autosomal recessive 37 | NGS and Sanger Sequencing of the MYO6 gene | 42 days | LV1969 | +Info |
| Deafness, autosomal dominant 11 | NGS and Sanger Sequencing of the MYO7A gene | 42 days | LV1972 | +Info |
| Deafness, autosomal recessive 2 | NGS and Sanger Sequencing of the MYO7A gene | 42 days | LV1972 | +Info |
| Usher syndrome, type 1B | NGS and Sanger Sequencing of the MYO7A gene | 42 days | LV1972 | +Info |
| Hajdu-Cheney syndrome | NGS and Sanger Sequencing of the NOTCH2 gene | 42 days | LV1979 | +Info |
| Deafness,autosomal recessive 9 and AR Auditory neuropathy type I | NGS and Sanger Sequencing of the OTOF gene | 42 days | LV2416 | +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 |
| Deafness, autosomal recessive 84 | NGS and Sanger Sequencing of the PTPRQ gene | 42 days | LV2018 | +Info |
| Deafness, autosomal dominant 36 | NGS and Sanger Sequencing of the TMC1 gene | 42 days | LV2058 | +Info |
| Deafness, autosomal recessive 7 | NGS and Sanger Sequencing of the TMC1 gene | 42 days | LV2058 | +Info |
| Neurofibromatosis, type 1 | NGS and sequential detection of deletions and duplications by MLPA of the NF1 gene (gDNA) | 49 days | LV3971 | +Info |
| Treacher Collins syndrome | NGS of 3 gene panel: POLR1C, POLR1D, TCOF1 | 42 days | LV3012 | +Info |
| Pendred Syndrome | NGS of 3 gene panel: SLC26A4, KCNJ10, FOXI1 | 42 days | LV2415 | +Info |
| Waardenburg syndrome | NGS of 7 gene panel: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR | 42 days | LV2994 | +Info |
| Coffin-Siris syndrome; Hyperphosphatasia with mental retardation syndrome | NGS of 8 gene panel: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, PGAP2, PIGO, PIGV | 42 days | LV2984 | +Info |
| Neurofibromatosis, type 1 | NGS of NF1 gene | 28 days | LV4044 | +Info |
| Treacher Collins syndrome | NGS of TCOF1 gene | 35 days | LV3204 | +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 |
| 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 |
| Leopard syndrome | NGS of a 3-gene panel: BRAF, PTPN11, RAF1 | 42 days | LV3953 | +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 |
| 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 |
| Craniometaphyseal dysplasia | Sanger Sequencing of the ANKH gene | 35 days | LV0966 | +Info |
| Bartter type 4A with neurosensorial hearing loss, Syndrome | Sanger Sequencing of the BSND gene | 28 days | LV0483 | +Info |
| Biotinidase deficiency | Sanger sequencing of the BTD gene | 32 days | LV2672 | +Info |
| Neurofibromatosis, type 1 | Sanger sequencing of the cDNA corresponding to the NF1 gene mRNA and confirmation of variants in gDNA | 63 days | LV3972 | +Info |
| Bartter type 4B, Syndrome | Sanger Sequencing of the CLCNKA and CLCNKB gene | 126 days | LV0828 | +Info |
| Bartter syndrome type 3 | Sanger Sequencing of the CLCNKB gene | 49 days | LV0831 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the FOXC1 gene | 35 days | LV1697 | +Info |
| Hypoparathyroidism, sensorineural deafness, and renal dysplasia | Sanger Sequencing of the GATA3 gene | 42 days | LV3068 | +Info |
| Deafness, nonsyndromic sensorineural autosomal recessive (DFNB1) | Sanger sequencing of the GJB2 gene | 28 days | LV1540 | +Info |
| Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant | Sanger Sequencing of the GJB3 gene | 28 days | LV0957 | +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 |
| Pituitary hormone deficiency, combined, 3 | Sanger sequencing of the LHX3 gene | Consult | LV1420 | +Info |
| Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | Sanger Sequencing of the LIFR gene | 49 days | LV1919 | +Info |
| Hyperostosis, endosteal | Sanger Sequencing of the LRP5 gene | 42 days | LV1929 | +Info |
| MELAS syndrome | Sanger Sequencing of the MT-ND5 mitochondrial gene | 35 days | LV0439 | +Info |
| Craniofacial-deafness-hand syndrome | Sanger Sequencing of the PAX3 gene | 42 days | LV3091 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the PITX2 gene | 35 days | LV2312 | +Info |
| Coffin-Lowry syndrome | Sanger Sequencing of the RPS6KA3 gene | 42 days | LV0335 | +Info |
| Shprintzen-Goldberg syndrome | Sanger Sequencing of the SKI gene | 35 days | LV2308 | +Info |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | Sanger Sequencing of the SLC26A4 gene | 42 days | LV1209 | +Info |
| Pendred Syndrome | Sanger Sequencing of the SLC26A4 gene | 42 days | LV1209 | +Info |
| Trichorhinophalangeal syndrome, type I | Sanger Sequencing of the TRPS1 gene | 84 days | LV1683 | +Info |
| Deafness, autosomal recessive 18 | Sanger Sequencing of the USH1C gene | 42 days | LV2090 | +Info |
| Usher syndrome, type 1C | Sanger Sequencing of the USH1C gene | 42 days | LV2090 | +Info |
| Wolfram syndrome | Sanger Sequencing of the WFS1 gene | 42 days | LV2116 | +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 |
| 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 |
