| 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 |
| Diabetes MODY type 1 | Detection of deletions and duplications in the GCK gene by MLPA | 28 days | LV3929 | +Info |
| Diabetes MODY type 2 | Detection of deletions and duplications in the GCK gene by MLPA | 28 days | LV3929 | +Info |
| Diabetes MODY type 3 | Detection of deletions and duplications in the GCK gene by MLPA | 28 days | LV3929 | +Info |
| Diabetes MODY type 5 | Detection of deletions and duplications in the GCK gene by MLPA | 28 days | LV3929 | +Info |
| Alagille, type 1 syndrome | Detection of deletions and duplications in the JAG1 gene by MLPA | 28 days | LV2302 | +Info |
| Hypogonadotropic hypogonadism 1 with or without anosmia | Detection of deletions and/or duplications in ANOS1 gene by MLPA. | 28 days | LV2894 | +Info |
| Aarskog-Scott syndrome | Detection of deletions and/or duplications in FGD1 gene by MLPA | 28 days | LV2320 | +Info |
| Growth hormone deficiency, isolated, type IA | Detection of deletions and/or duplications in GH1gene by MLPA. | 42 days | LV2553 | +Info |
| Growth hormone deficiency, isolated, type IB | Detection of deletions and/or duplications in GH1gene by MLPA. | 42 days | LV2553 | +Info |
| Growth hormone deficiency, isolated, type II | Detection of deletions and/or duplications in GH1gene by MLPA. | 42 days | LV2553 | +Info |
| Kowarski syndrome | Detection of deletions and/or duplications in GH1gene by MLPA. | 42 days | LV2553 | +Info |
| Mucopolysaccharidosis Type II | Detection of deletions and/or duplications in IDS gene by MLPA | 28 days | LV2513 | +Info |
| Hypercholesterolemia, familial | Detection of deletions and/or duplications in LDLR gene by MLPA | 28 days | LV2464 | +Info |
| Cornelia de Lange Syndrome | Detection of deletions and/or duplications in NIPBL gene by MLPA. | 28 days | LV2545 | +Info |
| Pituitary hormone deficiency, combined, 2 | Detection of deletions and/or duplications in PROP1 gene by MLPA. | 28 days | LV2893 | +Info |
| Pheochromocytoma | Detection of deletions and/or duplications in SDHB gene by MLPA | 28 days | LV2528 | +Info |
| Pendred Syndrome | Detection of deletions and/or duplications in SLC26A4 gene by MLPA | 28 days | LV3087 | +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 |
| Hyperoxaluria, primary, type I (HP1) | Detection of deletions/duplications in the AGXT, GRHPR genes by MLPA | 28 days | LV4201 | +Info |
| Primary hiperoxaluria type II | Detection of deletions/duplications in the AGXT, GRHPR genes by MLPA | 28 days | LV4201 | +Info |
| Parathyroid Carcinoma | Detection of deletions/duplications in the CDC73 gene by MLPA | 28 days | LV4141 | +Info |
| Thyroid dysgenesis | Detection of deletions/duplications in the TPO, PAX8, FOXE1, NKX2-1 and TSHR genes by MLPA | 28 days | LV4143 | +Info |
| Exostoses, hereditary multiple | Detection of large deletions and/or duplications in EXT1 and EXT2 genes by MLPA | 28 days | LV0473 | +Info |
| Short stature, idiopathic familial | Detection of large deletions and/or duplications in SHOX gene by MLPA | 28 days | LV0692 | +Info |
| Holt Oram syndrome | Detection of large deletions and/or duplications in TBX5 gene by MLPA | 28 days | LV2328 | +Info |
| Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Detection of large deletions and/or duplications in the CYP21A2 gene by MLPA | 28 days | LV1293 | +Info |
| Gorlin, syndrome | Detection of large deletions and/or duplications in the PTCH1 gene by MLPA | 28 days | LV2175 | +Info |
| Coffin-Lowry syndrome | Detection of large deletions and/or duplications in the RPS6KA3 gene by MLPA | 28 days | LV1537 | +Info |
| Glycine encephalopathy | Detection of large deletions and/or duplicationsin the GLDC gene by MLPA | 28 days | LV3399 | +Info |
| Pituitary hormone deficiency, combined, 3 | Detection of large deletions and/or duplicationsin the LHX3 gene by MLPA | 35 days | LV3432 | +Info |
| Fanconi Anemia | Detection of large deletions and/orduplications in the FANCA gene by MLPA | 35 days | LV1586 | +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 |
| Apert syndrome | Detection of mutations S252W and P253R in the FGFR2 gene | 28 days | LV0062 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| Congenital bilateral absence of vas deferens | Detection of the poli-T polymorphism, associated with male infertility | 28 days | LV1276 | +Info |
| Gonadal Dysgenesis (XY Female) | Determination of the presence or absence of the SRY gene by PCR | 28 days | LV0226 | +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 |
| Growth hormone deficiency, isolated, type IB | Growth hormone deficiency, isolated, type IB | Consult | LV2673 | +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 |
| Exostoses, hereditary multiple | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +Info |
| Medullary thyroid carcinoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Multiple Endocrine Neoplasia, type 2 | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Pheochromocytoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Multiple Endocrine Neoplasia type I | Large deletions and duplications detections in the MEN1 and AIP genes by MLPA | 28 days | LV3481 | +Info |
| Pituitary adenoma | Large deletions and duplications detections in the MEN1 and AIP genes by MLPA | 28 days | LV3481 | +Info |
| Pseudohypoparathyroidism Ib | Methylation analysis and detectionof deletions and/or duplicationsin 20q13.32 GNAS region by MLPA | 35 days | LV2915 | +Info |
| Pseudohypoparathyroidism Type IA / Pseudopseudohypoparathyroidism | Next Generation Sequencing and Sanger Sequencing of the GNAS gene | 28 days | LV1427 | +Info |
| Osteogenesis Imperfecta and decreased bone density group: Osteogenesis imperfecta AD and AR (EMQN) | Next Generation Sequencing of 10 gene panel: COL1A1, COL1A2, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7. | 42 days | LV2224 | +Info |
| Osteoporosis-pseudoglioma syndrome, Geroderma osteodysplasticum | Next Generation Sequencing of 2 gene panel: GORAB, LRP5. | 42 days | LV2227 | +Info |
| Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia group: Epiphyseal dysplasia, multiple (MED), type 4, AR, MED with early-onset diabetes mellitus, AR. | Next Generation Sequencing of 2 gene panel: EIF2AK3, SLC26A2. | 42 days | LV2208 | +Info |
| Bruck syndrome types 1, 2. (BS1, BS2). | Next Generation Sequencing of 2 gene panel: FKBP10, PLOD2. | 42 days | LV2228 | +Info |
| Osteogenesis imperfecta AD, Caffey disease, Osteogenesis imperfecta with unusual skeletal lesions | Next Generation Sequencing of 3 gene panel: ANO5, COL1A1, COL1A2. | 42 days | LV2225 | +Info |
| Acromesomelic dysplasias: Acromesomelic dysplasia types Maroteaux, Hunter-Thompson, Grebe dysplasia, Fibular hypoplasia and complex brachydactyly (Du Pan), Acromesomelic dysplasia with genital | Next Generation Sequencing of 3 gene panel: BMPR1B, GDF5, NPR2 | 42 days | LV2213 | +Info |
| Slender bone dysplasia group: 3-M syndrome 1, 2, Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2; Majewski type) | Next Generation Sequencing of 3 gene panel: CUL7, OBSL1, PCNT. | 42 days | LV2217 | +Info |
| Acromelic dysplasias: Acrocapitofemoral dysplasia, Geleophysic dysplasia, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, 4. | Next Generation Sequencing of 4 gene panel: ADAMTSL2, IHH, WDR19, WDR35. | 42 days | LV2212 | +Info |
| Increased bone density group (without modification of bone shape), Autosomal dominant: Osteopetrosis late-onset form type 2, Osteopetrosis, late-onset form type 1 (OPT | Next Generation Sequencing of 4 gene panel: CLCN7, FAM123B, LEMD3, LRP5. | 42 days | LV2221 | +Info |
| Neonatal osteosclerotic dysplasias: Raine syndrome, Blomstrand dysplasia, Caffey disease (including infantile and attenuated forms), Chondrodysplasia, Grebe type | Next Generation Sequencing of 4 gene panel: COL1A1, FAM20C, GDF5, PTH1R. | 42 days | LV2220 | +Info |
| Mesomelic and rhizo-mesomelic dysplasias: Leri-Weill dyschondrosteosis, Madelung wrist deformity, Langer type, Omodysplasia, Meier-Gorlin syndrome 1, Robinow syndrome, autosomal recessive | Next Generation Sequencing of 4 gene panel: GPC6, ORC1, ROR2, SHOX. | 42 days | LV2214 | +Info |
| Dysplasias with multiple joint dislocations: Desbuquois dysplasia, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Spondyloepiphyseal dysplasia with congenital joint | Next Generation Sequencing of 5 gene panel: B3GAT3, CANT1, CHST3, FLNB, PRG4. | 42 days | LV2218 | +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 |
| Metaphyseal dysplasias: Metaphyseal dysplasia, Schmid type, Jansen type, Eiken dysplasia, Cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type), Metaphyseal a | Next Generation Sequencing of 5 gene panel: COL10A1, MMP13, MMP9, PTH1R, RMRP | 42 days | LV2209 | +Info |
| Severe spondylodysplastic dysplasias: Chondrodysplasia, lethal neonatal, with snail-like pelvis o Schneckenbecken dysplasia, Achondrogenesis 1A , Achondrogenesis 2, Platyspo | Next Generation Sequencing of 6 gene panel: COL11A1, COL2A1, SLC26A2, SLC35D1, TRIP11, TRPV4. | 42 days | LV2211 | +Info |
| Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia group: Pseudoachondroplasia, MED type 1, 2, 3, 5, 6, Stickler syndrome. | Next Generation Sequencing of 6 gene panel: COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3. | 42 days | LV2207 | +Info |
| Disorganized development of skeletal components group: Multiple cartilaginous exostoses 1, 2. Fibrous dysplasia, polyostotic form, Progressive osseous heteroplasia, Osteoglop | Next Generation Sequencing of 6 gene panel: ANO5, EXT1, EXT2, FGFR1, GNAS, SH3BP2 | 42 days | LV2232 | +Info |
| Genetic inflammatory/rheumatoid-like osteoarthropathies: Multifocal osteomyelitis with dyserythropoietic anemia (Majeed syndrome); Sterile multifocal osteomyelitis, periostiti | Next Generation Sequencing of 7 gene panel: ACAN, COL2A1, HPGD, IL1RN, LPIN2, TRPV4, WISP3. | 42 days | LV2233 | +Info |
| Chondrodysplasia punctata (CDP) group: CDP, types 1, 2, 3; Greenberg dysplasia, autosomal recessive; CDP with joint dislocations, GRAPP type; CDP, brachytelephalangic | Next Generation Sequencing of 7 gene panel: AGPS, ARSE, EBP, GNPAT, IMPAD1, LBR, PEX7. | 42 days | LV2219 | +Info |
| Hypophosphatemic rickets (HR), XLD, HR with hypercalciuria, AD, HR, types 1, 2. HR Vitamin D-dependent rickets, type I, AR, Hypophosphatasia, Odontohypophosphat | Next Generation Sequencing of 7 gene panel: ALPL, CYP27B1, DMP1, ENPP1, FGF23, PHEX, SLC34A3. | 42 days | LV2230 | +Info |
| Bent bones dysplasias: Stuve-Wiedemann / Schwartz-Jampel 2, Silverman-Handmaker, Rolland-Desbuquois, Schwartz-Jampel, syndromes. Campomelic dysplasia, Cartilage-hair hypoplasia, Hypophosphat | Next Generation Sequencing of 7 gene panel: ALPL, GHR, GHSR, HSPG2, LIFR, RMRP, SOX9. | 42 days | LV2216 | +Info |
| Increased bone density group with metaphyseal and/or diaphyseal involvement: Diaphyseal dysplasia Camurati-Engelmann; Craniometaphyseal dysplasia; Hypertrophic osteoarthropathy; | Next Generation Sequencing of 7 gene panel: ANKH, DLX3, HPGD, LRP4, SOST, TGFB1, TNFRSF11B. | 42 days | LV2223 | +Info |
| Osteolysis group: Familial expansile osteolysis, Torg-Winchester syndrome, Nasu-Hakola disease, Nestor-Guillermo progeria syndrome, Acrosteolysis neurogenic, Paget disease, | Next Generation Sequencing of 7 gene panel: BANF1, MMP2, SQSTM1, TNFRSF11A, TREM2, TYROBP,WNK1, | 42 days | LV2231 | +Info |
| Short-ribs dysplasias (with or without polydactyly) group (SRPS): Chondroectodermal dysplasia (Ellis-van Creveld), SRPS typeS 1/3, (Saldino-Noonan/Verma-Naumoff), II, III, V. | Next Generation Sequencing of 7 gene panel: DYNC2H1, EVC, EVC2, GLI2, IFT80, NEK1, WDR35. | 42 days | LV2205 | +Info |
| Short stature related with Pituitary hormone deficiency, combined, Growth hormone deficiency with pituitary anomalies, Laron dwarfism. | Next Generation Sequencing of 7 gene panel: GHR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1. | 42 days | LV2215 | +Info |
| Increased bone density group (without modification of bone shape), Autosomal recessive: Buschke-Ollendorff syndrome or osteopoikilosis with melorheostosis, Osteopetrosis, sev | Next Generation Sequencing of 7 gene panel:CA2, CLCN7, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11. | 42 days | LV2222 | +Info |
| Next Generation Sequencing of 8 gene panel: COL2A1, DYM, DDR2, EIF2AK3, MATN3, NKX3-2, SLC39A13, TRAPPC2. | 42 days | LV2210 | +Info |
| Pheochromocytoma / Paraganglioma | NGS and bioinformatic CNVs screening, 13-gene panel: EPAS1, FH, KIF1B, MAX, MDH2, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL | 42 days | LV4356 | +Info |
| Acromicric dysplasia | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Glycogen storage disease III | NGS and Sanger Sequencing of the AGL gene | 42 days | LV2477 | +Info |
| Hypercholesterolemia, familial | NGS and Sanger sequencing of the APOB gene | 28 days | LV3429 | +Info |
| Hypobetalipoproteinemia | NGS and Sanger sequencing of the APOB gene | 28 days | LV3429 | +Info |
| Hypophosphatemic rickets, autosomal recessive, 2 | NGS and Sanger Sequencing of the ENPP1 gene | 42 days | LV1840 | +Info |
| Larsen syndrome | NGS and Sanger Sequencing of the FLNB gene | 42 days | LV1869 | +Info |
| Carney complex variant | NGS and Sanger Sequencing of the MYH8 gene | 42 days | LV1958 | +Info |
| Cerebellar hypoplasia and mental retardation with or without quadruped | NGS of 11 gene panel: ATP8A2, CA8, CASK, DLG1, GAD1, GCK, IGF1, KANK1, MECP2, VLDLR, WDR81 | 42 days | LV2988 | +Info |
| Mental retardation (MR) with or without quadrupedal locomotion; Cerebral palsy, spastic quadriplegic; Encephalopathy, neonatal severe; Diabetes mellitus, permanent neonatal with MR; IGF1 deficien | NGS of 11 gene panel: ATP8A2, CA8, CASK, DLG1, GAD1, GCK, IGF1, KANK1, MECP2, VLDLR, WDR81 | 42 days | LV2988 | +Info |
| Hyperostosis Corticalis generalisata | NGS of 2 genes: LRP5, SOST | 42 days | LV2321 | +Info |
| Treacher Collins 2, 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 |
| Robinow; Aarskog-Scott; Opitz GBBB; KBG, syndromes | NGS of 5 gene panel: ANKRD11, FGD1, MID1, ROR2, WNT5A | 42 days | LV3014 | +Info |
| Cornelia de Lange syndrome | NGS of 5 gene panel: HDAC8, NIPBL, RAD21, SMC1A, SMC3 | 42 days | LV2993 | +Info |
| Hypercholesterolemia, familial | NGS of 8 gene panel: ABCG5, ABCG8, APOB,APOE, CYP7A1, LDLR, LDLRAP1, PCSK9. | 42 days | LV3368 | +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 |
| Mental retardation witn skeletal dysplasia: Apert; Beare-Stevenson cutis gyrata; Saethre-Chotzen; Muenke; FG 2; Rubinstein-Taybi; Craniofacial dysmorphism, skeletal anomalies, and MR; | NGS of 8 gene panel: CREBBP, FGFR2, FGFR3, HCCS, HDAC6, SLC35A3, TMCO1, ZBTB16 | 42 days | LV3009 | +Info |
| Hypercholesterolemia, familial | NGS of a 3-gene panel: APOB, LDLR and PCSK9 | 42 days | LV3931 | +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 |
| 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 |
| 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 |
| Familial Hypercholesterolemia and hyperlipidemia, mixed and detection of Statin myopathy | NGS of 16 gene panel: ABCG5, ABCG8, APOB, APOE, CH25H, CYP7A1, INSIG2, LDLR, LDLRAP1, LIPA, NPC1, NPC2, OSBPL5, PCSK9, STAP1, SLCO1B1 | 42 days | LV3390 | +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 |
| Combined immunodeficiency with defects of vitamin B12 and folate metabolism | NGS of 3 gene panel: TCN2,SLC46A1,MTHFD1 | 42 days | LV3687 | +Info |
| Glycogen storage disease | NGS of 4 gene panel: G6PC, GYS1, GYS2, SLC37A4 | 42 days | LV3270 | +Info |
| Hyperalphalipoproteinemia | NGS of 4 gene panel: APOC3, CETP, LIPC, SLCO1B1 | 42 days | LV3392 | +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 |
| Hypoalphalipoproteinemia. | NGS of 5 gene panel: ABCA1, APOA1, GBA, LCAT, LPL | 42 days | LV3394 | +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 |
| Endocrine tumors ( Pituitary adenoma, MEN2/ CMT, MEN1, Von Hippel Lindau, Carney complex) | NGS of 7 gene panel: AIP, CDKN1B, RET, MEN1, VHL, PRKAR1A, DICER1 | 42 days | LV3634 | +Info |
| Hypocholesterolemia and Hypotriglyceridemia | NGS of 7 gene panel: ANGPTL3, APOB, APOC3, MTTP, NPC1L1, PCSK9, SAR1B. | 42 days | LV3393 | +Info |
| Hypobetalipoproteinemia | NGS of 7 gene panel: ANGPTL3, APOB, APOC3, MTTP, NPC1L1, PCSK9, SAR1B. | 42 days | LV3395 | +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 |
| Glycogen storage disease | NGS of 24 gene panel: AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4. | 42 days | LV3397 | +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 |
| Dyslipidemia associated with storage diseases | NGS of 4 gene panel: NPC1, NPC2, LIPA, GBA | 42 days | LV3396 | +Info |
| Hypertriglyceridemia | NGS of 9 gene panel: APOA5, APOB, APOC2, GCKR, GPD1, GPIHBP1, LMF1, LPL, SLCO1B1 | 42 days | LV3391 | +Info |
| Hypocalciuric hypercalcemia, type I | Sanger secuencing of the CASR gene | 28 days | LV3232 | +Info |
| Hypoaldosteronism, congenital, due to CMO II deficiency | Sanger secuencing of the CYP11B2 gene | 35 days | LV3287 | +Info |
| 17-alpha-hydroxylase deficiency | Sanger secuencing of the CYP17A1 gene | 56 days | LV3398 | +Info |
| Laron Dwarfism | Sanger secuencing of the GHR gene | 35 days | LV3237 | +Info |
| Chorea, hereditary benign | Sanger secuencing of the NKX2-1 gene | 28 days | LV3240 | +Info |
| Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Sanger sequencing and detection of deletions/duplications by MLPA in the CYP21A2 gene | 42 days | LV4219 | +Info |
| Sjogren-Larsson, Syndrome | Sanger Sequencing of ALDH3A2 gene | 46 days | LV2280 | +Info |
| Dent disease | Sanger Sequencing of CLCN5 gene | 49 days | LV2276 | +Info |
| Holt Oram syndrome | Sanger sequencing of gen TBX5 gene | 35 days | LV0761 | +Info |
| Growth hormone deficiency, isolated, type IA | Sanger sequencing of GH1 gene | Consult | LV2664 | +Info |
| Growth hormone deficiency, isolated, type IB | Sanger sequencing of GH1 gene | Consult | LV2664 | +Info |
| Growth hormone deficiency, isolated, type II | Sanger sequencing of GH1 gene | Consult | LV2664 | +Info |
| Kowarski syndrome | Sanger sequencing of GH1 gene | Consult | LV2664 | +Info |
| 46XY sex reversal 2 | Sanger sequencing of the NR0B1 gene | 35 days | LV3772 | +Info |
| Adrenal hypoplasia, congenital | Sanger sequencing of the NR0B1 gene | 35 days | LV3772 | +Info |
| Spondyloenchondrodysplasia with immune dysregulation | Sanger Sequencing of the ACP5 gene | Consult | LV2969 | +Info |
| Geleophysic dysplasia 1 | Sanger Sequencing of the ADAMTSL2 gene | Consult | LV2896 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Sanger sequencing of the AGXT gene | 53 days | LV3674 | +Info |
| Pituitary adenoma | Sanger sequencing of the AIP gene | 35 days | LV3821 | +Info |
| Autoimmune Polyendocrinopathy Syndrome Type 1 | Sanger Sequencing of the AIRE gene | 46 days | LV1289 | +Info |
| Proteus syndrome, somatic | Sanger Sequencing of the AKT1 gene | 42 days | LV2525 | +Info |
| Alstrom syndrome | Sanger Sequencing of the ALMS1 gene | 84 days | LV2331 | +Info |
| Glycine encephalopathy | Sanger Sequencing of the AMT gene | 28 days | LV2323 | +Info |
| Hypogonadotropic hypogonadism 1 with or without anosmia | Sanger Sequencing of the ANOS1 gene | 49 days | LV2330 | +Info |
| ACTH-independent macronodular adrenal hyperplasia 2 | Sanger sequencing of the ARMC5 gene | 32 days | LV3538 | +Info |
| Bohring Opitz syndrome | Sanger Sequencing of the ASXL1 gene | 46 days | LV2916 | +Info |
| Diabetes insipidus, neurohypophyseal | Sanger Sequencing of the AVP gene | 35 days | LV2963 | +Info |
| Diabetes Insipidus, Nephrogenic, X-Linked | Sanger Sequencing of the AVPR2 gene | 35 days | LV0965 | +Info |
| Parathyroid Carcinoma | Sanger Sequencing of the CDC73 (HRPT2) gene | 49 days | LV1179 | +Info |
| Aldosteronism, glucocorticoid-remediable | Sanger sequencing of the CYP11B1 gene | 35 days | LV3286 | +Info |
| Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Sanger sequencing of the CYP21A2 gene | 42 days | LV0764 | +Info |
| Primary Ciliary Dyskinesia 1 | Sanger sequencing of the DNAI1 gene | 49 days | LV1104 | +Info |
| Exostoses, hereditary multiple | Sanger Sequencing of the EXT1 gene | 42 days | LV0433 | +Info |
| Fanconi Anemia | Sanger Sequencing of the FANCA gene | 42 days | LV1847 | +Info |
| Aarskog-Scott syndrome | Sanger Sequencing of the FGD1 gene | 42 days | LV2314 | +Info |
| Hypophosphatemic Rickets AD | Sanger sequencing of the FGF23 gene | 28 days | LV0745 | +Info |
| Follicle-stimulating hormone deficiency, isolated | Sanger Sequencing of the FSHB gene | 21 days | LV2274 | +Info |
| Hypoparathyroidism, sensorineural deafness, and renal dysplasia | Sanger Sequencing of the GATA3 gene | 42 days | LV3068 | +Info |
| Gaucher disease | Sanger Sequencing of the GBA gene | 46 days | LV2300 | +Info |
| Diabetes MODY type 2 | Sanger sequencing of the GCK gene | 42 days | LV0313 | +Info |
| Glycine encephalopathy | Sanger Sequencing of the GLDC gene | 60 days | LV2289 | +Info |
| Primary hiperoxaluria type II | Sanger sequencing of the GRHPR gene | 42 days | LV3675 | +Info |
| Hyperinsulinemic hypoglycemia, familial, 4 | Sanger sequencing of the HADH gene | 42 days | LV3171 | +Info |
| Diabetes MODY type 3 | Sanger Sequencing of the HNF1A gene | 42 days | LV0314 | +Info |
| Diabetes MODY type 5 | Sanger sequencing of the HNF1B gene | 35 days | LV4115 | +Info |
| Diabetes MODY type 1 | Sanger Sequencing of the HNF4A gene | 42 days | LV0312 | +Info |
| Primary hiperoxaluria type III | Sanger sequencing of the HOGA1 gene | 35 days | LV3738 | +Info |
| Lesch-Nyhan syndrome | Sanger Sequencing of the HPRT1 gene | 49 days | LV2299 | +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 |
| Diabetes, permanent neonatal | Sanger sequencing of the INS gene | 28 days | LV4130 | +Info |
| Isovaleric acidemia | Sanger sequencing of the IVD gene | 35 days | LV3822 | +Info |
| Alagille, type 1 syndrome | Sanger Sequencing of the JAG1 gene | 42 days | LV0236 | +Info |
| Diabetes, permanent neonatal | Sanger Sequencing of the KCNJ11 gene | Consult | LV1565 | +Info |
| Hypogonadotropic hypogonadism 13 with or without anosmia | Sanger sequencing of the KISS1 gene | 56 days | LV3400 | +Info |
| Hypogonadotropic hypogonadism 8 with or without anosmia | Sanger sequencing of the KISS1R gene | 56 days | LV3401 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLR gene | 42 days | LV0219 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLRAP1 gene | Consult | LV2303 | +Info |
| Morbid Obesity | Sanger Sequencing of the LEP gene | 42 days | LV0474 | +Info |
| Obesity, morbid, due to leptin receptor deficiency | Sanger sequencing of the LEPR gene | 49 days | LV3472 | +Info |
| Pituitary hormone deficiency, combined, 3 | Sanger sequencing of the LHX3 gene | Consult | LV1420 | +Info |
| Pituitary hormone deficiency, combined, 4 | Sanger sequencing of the LHX4 gene | 53 days | LV1418 | +Info |
| Morbid Obesity | Sanger Sequencing of the MC4R gene | 42 days | LV0481 | +Info |
| Multiple Endocrine Neoplasia type I | Sanger sequencing of the MEN1 gene | 35 days | LV0758 | +Info |
| Precocious puberty central 2 | Sanger sequencing of the MKRN3 gene | 56 days | LV3402 | +Info |
| Methylmalonic aciduria and homocystinuria, cblC type | Sanger Sequencing of the MMACHC gene | Consult | LV2967 | +Info |
| MELAS syndrome | Sanger Sequencing of the MT-ND5 mitochondrial gene | 35 days | LV0439 | +Info |
| Diarrhea 4, malabsorptive, congenital | Sanger sequencing of the NEUROG3 gene | 84 days | LV3281 | +Info |
| Cornelia de Lange Syndrome | Sanger Sequencing of the NIPBL gene | 63 days | LV0881 | +Info |
| Pseudohypoaldosteronism type I, autosomal dominant | Sanger Sequencing of the NR3C2 gene | 53 days | LV2968 | +Info |
| Succinyl CoA:3-oxoacid CoA transferase deficiency | Sanger sequencing of the OXCT1 gene | 46 days | LV3621 | +Info |
| X-linked hypophosphatemic rickets | Sanger Sequencing of the PHEX gene | 70 days | LV0005 | +Info |
| Borjeson-Forssman-Lehmann syndrome | Sanger Sequencing of the PHF6 gene | 35 days | LV2336 | +Info |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | Sanger Sequencing of the POLD1 gene | 46 days | LV2977 | +Info |
| Treacher Collins 2, Syndrome | Sanger Sequencing of the POLR1D gene | 28 days | LV2150 | +Info |
| Obesity, adrenal insufficiency, and red hair due to POMC deficiency | Sanger sequencing of the POMC gene | 49 days | LV3473 | +Info |
| Pituitary hormone deficiency, combined, 1 | Sanger Sequencing of the POU1F1 gene | Consult | LV1174 | +Info |
| Carney complex variant | Sanger sequencing of the PRKAR1A gene | 35 days | LV3290 | +Info |
| Pituitary hormone deficiency, combined, 2 | Sanger Sequencing of the PROP1 gene | Consult | LV1218 | +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 |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Multiple Endocrine Neoplasia, type 2 | Sanger Sequencing of the RET gene | 42 days | LV0225 | +Info |
| Cartilage-Hair Hypoplasia | Sanger Sequencing of the RMRP gene | 53 days | LV1114 | +Info |
| Coffin-Lowry syndrome | Sanger Sequencing of the RPS6KA3 gene | 42 days | LV0335 | +Info |
| Gastrointestinal stromal tumor | Sanger sequencing of the SDHC gene | 28 days | LV3236 | +Info |
| MEGDEL syndrome (3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome) | Sanger sequencing of the SERAC1 gene | 56 days | LV3387 | +Info |
| Short stature, idiopathic familial | Sanger Sequencing of the SHOX gene | 42 days | LV0741 | +Info |
| Marinesco-Sjogren syndrome | Sanger Sequencing of the SIL1 gene | 35 days | LV2470 | +Info |
| Erythrocyte lactate transporter defect | Sanger sequencing of the SLC16A1 gene | 53 days | LV3660 | +Info |
| Hyperinsulinemic hypoglycemia, familial, 7 | Sanger sequencing of the SLC16A1 gene | 53 days | LV3660 | +Info |
| Monocarboxylate transporter 1 deficiency | Sanger sequencing of the SLC16A1 gene | 53 days | LV3660 | +Info |
| Pendred Syndrome | Sanger Sequencing of the SLC26A4 gene | 42 days | LV1209 | +Info |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ | Sanger Sequencing of the SLC39A4 gene | 28 days | LV1550 | +Info |
| Cornelia de Lange syndrome 2 | Sanger Sequencing of the SMC1A gene | 49 days | LV2404 | +Info |
| Panhypopituitarism, X-linked | Sanger Sequencing of the SOX3 gene | 35 days | LV2316 | +Info |
| Gonadal Dysgenesis (XY Female) | Sanger Sequencing of the SRY gene | 28 days | LV0268 | +Info |
| Adrenocorticotropic hormone deficiency | Sanger sequencing of the TBX19 gene | 35 days | LV4047 | +Info |
| Congenital Hypothyroidism, Nongoitrous 1 | Sanger sequencing of the THRA gene | 28 days | LV4310 | +Info |
| Thyroid hormone resistance, autosomal recessive and dominant | Sanger sequencing of the THRB gene | 32 days | LV3608 | +Info |
| Hereditary motor and sensory neuropathy, type IIc | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Metatropic dysplasia | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Congenital Hypothyroidism, Nongoitrous 1 | Sanger sequencing of the TSHR gene | 42 days | LV1350 | +Info |
| Von Hipel Lindau syndrome | Sanger sequencing of the VHL gene | 42 days | LV0420 | +Info |
| Cerebellar hypoplasia and mental retardation with or without quadruped | Sanger Sequencing of the VLDLR gene | 35 days | LV2598 | +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 |
| Pheochromocytoma / Paraganglioma | Sanger sequencing of the SDHA, SDHB, SDHC, SDHD genes. | 63 days | LV3833 | +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 |
