| 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 |
| 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 |
| Duane-radial ray syndrome | Detection of deletions and/or duplications in SALL4 gene by MLPA | 28 days | LV3085 | +Info |
| Pheochromocytoma | Detection of deletions and/or duplications in SDHB gene by MLPA | 28 days | LV2528 | +Info |
| Paragangliomas | Detection of deletions and/or duplications in the SDHB, SDHC, SDHD, SDHA, SDHAF2 genes by MLPA. | 42 days | LV2666 | +Info |
| Pheochromocytoma | Detection of deletions and/or duplications in the SDHB, SDHC, SDHD, SDHA, SDHAF2 genes by MLPA. | 42 days | LV2666 | +Info |
| X-linked hypophosphatemic rickets | Detection of deletions/duplications in the PHEX gene by MLPA | 28 days | LV4193 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the ALAD, HMBS, UROS, UROD, CPOX, FECH, PPOX genes by MLPA | 28 days | LV4185 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the ALAD,HMBS, PPOX genes by MLPA | 28 days | LV4186 | +Info |
| Porphyria, Acute Intermittent | Detection of deletions/duplications in the UROS, UROD, CPOX, FECH genes by MLPA | 28 days | LV4188 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Detection of large deletions and/or duplications in GLA gene by MLPA | 28 days | LV1181 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | Detection of large deletions and/or duplications in PKD2 gene by MLPA | 28 days | LV1330 | +Info |
| Polycystic Kidney Disease, autosomal recessive | Detection of large deletions and/or duplications in PKHD1 gene by MLPA | 42 days | LV1426 | +Info |
| Alport syndrome | Detection of large deletions and/or duplications in the COL4A4 gene by MLPA | 28 days | LV3275 | +Info |
| Hematuria, benign familial | Detection of large deletions and/or duplications in the COL4A4 gene by MLPA | 28 days | LV3275 | +Info |
| Gorlin, syndrome | Detection of large deletions and/or duplications in the PTCH1 gene by MLPA | 28 days | LV2175 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | Detection of large deletions and/or duplicationsin PKD1 and PKD2 genes by MLPA | 35 days | LV1329 | +Info |
| Alport syndrome | Detection of large deletions and/or duplicationsin the COL4A3 gene by MLPA | 28 days | LV3274 | +Info |
| Hematuria, benign familial | 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 |
| Fanconi Anemia | Detection of large deletions and/orduplications in the FANCA gene by MLPA | 35 days | LV1586 | +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 |
| Pheochromocytoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +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 |
| Sebastian syndrome | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Hearing loss secondary to kidney diseases | Next Generation Sequencing of 3 gene panel: BSND, GATA3, MYH9. | 42 days | LV1544 | +Info |
| Alport syndrome types AD, AR, X-Linked, Hematuria, benign familial, Leiomyomatosis, diffuse, with Alport syndrome, | Next Generation Sequencing of 4 gene panel: COL4A3, COL4A4, COL4A5, COL4A6. | 42 days | LV2190 | +Info |
| Brain small vessel disease with hemorrhage. Angiopathy, hereditary, with nephropathy, aneurysms. and Porencephaly, Bone fragility with contractures, arterial rupture and deafness o Lysyl hy | Next Generation Sequencing of 5 gene panel: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3 | 42 days | LV2176 | +Info |
| Cutis laxa 1,2 AD, Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities. Cutis laxa, AR, type IB, IA, IIB, IIIB. | Next Generation Sequencing of 5 gene panel: EFEMP2, ELN, FBLN5, LTBP4, PYCR1 | 42 days | LV2180 | +Info |
| Abnormal mineralization group: Nephrolithiasis / osteoporosis, hypophosphatemic, 1, 2 , Fanconi renotubular syndrome 2, Chondrocalcinosis 2 AD, Metaphyseal dysplasia, Jansen and Eiken types | Next Generation Sequencing of 5 gene panel: ANKH, AMER1, PTH1R, SLC34A1, SLC9A3R1. | 42 days | LV2229 | +Info |
| Brain small vessel disease with hemorrhage. Angiopathy, hereditary, with nephropathy, aneurysms. and Porencephaly, Bone fragility with contractures, arterial rupture and deafness o Lysyl hy | Next Generation Sequencing of 6 gene panel: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3, RASA1 | 42 days | LV3111 | +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 |
| Polycystic Kidney Disease, autosomal recessive | NGS and bioinformatic CNV screening of the PKHD1 gene | 42 days | LV4226 | +Info |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle | NGS and Sanger Sequencing of the COL4A1 gene | 42 days | LV2408 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | NGS and Sanger sequencing of the PKD1 gene | 42 days | LV3452 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | NGS and Sanger Sequencing of the VPS33B gene | 42 days | LV2096 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | NGS of 2 gene panel: PKD1, PKD2. | 42 days | LV3451 | +Info |
| Polycystic Kidney Disease, AD, AR | NGS of 3 gene panel: PKD1, PKD2, PKHD1. | 42 days | LV3428 | +Info |
| Nephronophthisis; Senior-Loken syndrome; Renal tubular acidosis, proximal, with ocular abnormalities; proximal renal tubular acidosis, mental retardation, and bilateral glaucoma; Ciliary dyski | NGS of 7 gene panel: CCDC40, INVS, NPHP1, SDCCAG8, SLC4A4, TTC21B, ZNF423 | 42 days | LV3028 | +Info |
| Hermansky-Pudlak syndrome | NGS of 8 gene panel: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS4, HPS5, HPS6 | 42 days | LV2983 | +Info |
| Hereditary Cáncer Syndromes | NGS of 111 gene panel:APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A,BRCA1, BRCA2, BRIP1, BUB1, CDH1, CDK4, CDKN1B,CDKN2A, CHEK2, DDB2, DICER1, DIS3L2, DKC1, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5,ERCC6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF,FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GFI1,GREM1, HOXB13, JAGN1, KIF1B, KIT, MAX, MDH2, MEN1, MET, MITF, MLH1, MNX1, MSH2, MSH6, MSR1, MUTYH, NBN, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2,PARN, PDGFRA, PMS1, POLD1, POLE, POLH, POT1,PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RTEL1, SCG5,SLX4, SMAD4, SMARCA4, STK11, SUFU, TERC, TERT,TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL,VPS45, WAS, WRN, WT1, XPA, XPC, XRCC2 | 56 days | LV3651 | +Info |
| Sudden Death | NGS of a 200-gene panel: ABCC6, ABCC9, ACTA2, ACTC1, ACTN2, ACVRL1, AGL, AKAP9, ALG10, ANK2, ANKRD1, BAG3, BMPR2, BRAF, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CBL, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EFEMP2, EIF2AK4, ELN, EMD, ENG, ENPP1, EYA4, FBLN5, FBN1, FBN2, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXF1, FXN, GAA, GATA4, GATA6, GATAD1, GBE1, GDF2, GJA1, GJA5, GLA, GLMN, GNAI2, GPD1L, GUCY1A3, GYG1, GYS1, HCN4, HFE, HRAS, HTRA1, ILK, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KRAS, KRIT1, LAMA4, LAMP2, LDB3, LMNA, LOX, LRP6, LZTR1, MAP2K1, MAP2K2, MEF2A, MFAP5, MIB1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOT, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NKX2-6, NOTCH1, NOTCH3, NPPA, NRAS, NUP155, OBSCN, PDLIM3, PKP2, PKP4, PLN, PLOD1, PRDM16, PRKAG2, PRKG1, PROC, PROS1, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RNF213, RRAS, RYR1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SLC2A10, SLMAP, SMAD3, SMAD4, SMAD6, SNTA1, SOS1, SOS2, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TPM1, TRDN, TRPM4, TTN, TTR, VCL, XK, ZNF469 | 56 days | LV3969 | +Info |
| Glomerulosclerosis, focal segmental, 1 | Sanger secuencing of the ACTN4 gene | 56 days | LV3370 | +Info |
| Hypocalciuric hypercalcemia, type I | Sanger secuencing of the CASR gene | 28 days | LV3232 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Seq.of the GLA gene & Detection of large deletions and/or duplications in the GLA gene by MLPA | 42 days | LV1495 | +Info |
| Dent disease | Sanger Sequencing of CLCN5 gene | 49 days | LV2276 | +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 |
| Hemolytic-Uremic Syndrome | Sanger sequencing of the C3 gene | 42 days | LV3243 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CD46 gene | Consult | LV0947 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CFB gene | Consult | LV0949 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CFH gene | 56 days | LV0946 | +Info |
| Hemolytic-Uremic Syndrome | Sanger Sequencing of the CFI gene | Consult | LV0948 | +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 |
| Fanconi Anemia | Sanger Sequencing of the FANCA gene | 42 days | LV1847 | +Info |
| Hypophosphatemic Rickets AD | Sanger sequencing of the FGF23 gene | 28 days | LV0745 | +Info |
| Hereditary leiomyomatosis and renal cell cancer syndrome | Sanger sequencing of the FH gene | 42 days | LV0775 | +Info |
| Birt-Hogg-Dube syndrome | Sanger Sequencing of the FLCN gene | 56 days | LV2566 | +Info |
| Polycystic kidney disease 3 | Sanger sequencing of the GANAB gene | 49 days | LV3820 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Sequencing of the GLA gene | 42 days | LV1180 | +Info |
| Lesch-Nyhan syndrome | Sanger Sequencing of the HPRT1 gene | 49 days | LV2299 | +Info |
| Nail Patella syndrome | Sanger Sequencing of the LMX1B gene | 63 days | LV0341 | +Info |
| Mediterranean Fever, familial | Sanger Sequencing of the MEFV gene | 42 days | LV0009 | +Info |
| Bardet-Biedl type 6, Syndrome | Sanger Sequencing of the MKKS gene | 35 days | LV0912 | +Info |
| Medullary cystic kidney disease 1 | Sanger sequencing of the MUC1 gene | 28 days | LV3219 | +Info |
| Nephrotic syndrome, type 1 | Sanger Sequencing of the NPHS1 gene | 42 days | LV0939 | +Info |
| Nephrotic Syndrome, Steroid-Resistant | Sanger Sequencing of the NPHS2 gene | 35 days | LV1159 | +Info |
| Pseudohypoaldosteronism type I, autosomal dominant | Sanger Sequencing of the NR3C2 gene | 53 days | LV2968 | +Info |
| Lowe syndrome | Sanger Sequencing of the OCRL gene | 42 days | LV0338 | +Info |
| Sanger Sequencing of the PAX2 gene | 46 days | LV1686 | +Info |
| Glycogen storage disease X | Sanger Sequencing of the PGAM2 gene | Consult | LV2288 | +Info |
| X-linked hypophosphatemic rickets | Sanger Sequencing of the PHEX gene | 70 days | LV0005 | +Info |
| Polycystic Kidney Disease, Autosomal Dominant | Sanger Sequencing of the PKD2 gene | 49 days | LV1107 | +Info |
| Porphyria Variegata | Sanger Sequencing of the PPOX gene | 28 days | LV0333 | +Info |
| Polycystic Liver Disease | Sanger Sequencing of the PRKCSH gene | 56 days | LV0937 | +Info |
| Hyperprolinemia, type I | Sanger Sequencing of the PRODH gene | 35 days | LV3162 | +Info |
| Hereditary pancreatitis | Sanger sequencing of the PRSS1 gene | 33 days | LV3668 | +Info |
| Gorlin, syndrome | Sanger Sequencing of the PTCH1 gene | 42 days | LV0336 | +Info |
| Pseudohypoaldosteronism Type 1B, Autosomal Recessive | Sanger sequencing of the SCNN1A gene | 56 days | LV1424 | +Info |
| Liddle syndrome | Sanger Sequencing of the SCNN1B gene | 42 days | LV0469 | +Info |
| Liddle syndrome | Sanger Sequencing of the SCNN1G gene | 42 days | LV0470 | +Info |
| Polycystic Liver Disease | Sanger Sequencing of the SEC63 gene | 126 days | LV0938 | +Info |
| Renal Glucosuria | Sanger Sequencing of the SLC5A2 gene | Consult | LV0932 | +Info |
| Nephronophthisis 11 | Sanger sequencing of the TMEM67 gene | 28 days | LV3201 | +Info |
| Ectrodactyly, Ectodermal Dysplasia and Cleft lip/Palate Syndrome | Sanger Sequencing of the TP63 gene (TP73L) | 49 days | LV0317 | +Info |
| Glomerulosclerosis, focal segmental, 2 | Sanger sequencing of the TRPC6 gene | 56 days | LV3369 | +Info |
| Medullary Cystic Kidney Disease 2 | Sanger Sequencing of the UMOD gene | 42 days | LV0476 | +Info |
| Von Hipel Lindau syndrome | Sanger sequencing of the VHL gene | 42 days | LV0420 | +Info |
| Gordon Syndrome | Sanger Sequencing of the WNK4 gene | 42 days | LV0825 | +Info |
| Denys-Drash syndrome | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +Info |
| Frasier syndrome | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +Info |
| Nephrotic syndrome, type 4 | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +Info |
| Wilms tumor, type 1 | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +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 |
