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| Disease | Modality | Delivery | Reference | Data sheet |
|---|---|---|---|---|
| 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 |
| Muscular Dystrophy Limb-Girdle type 2A (LGMD2A) | Detection of deletions and duplications in the CAPN3 gene by MLPA | 28 days | LV4075 | +Info |
| Ehlers-Danlos syndrome type 1 | Detection of deletions and/or duplications in COL5A1 gene by MLPA | 28 days | LV3084 | +Info |
| Mucopolysaccharidosis Type II | Detection of deletions and/or duplications in IDS gene by MLPA | 28 days | LV2513 | +Info |
| Ehlers-Danlos syndrome, type VI | Detection of deletions and/or duplications in PLOD1 gene by MLPA | 28 days | LV3077 | +Info |
| Duane-radial ray syndrome | Detection of deletions and/or duplications in SALL4 gene by MLPA | 28 days | LV3085 | +Info |
| Ehlers-Danlos Syndrome, type III | Detection of deletions and/or duplications in TNXB gene by MLPA | 28 days | LV1161 | +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 |
| Spondyloarthropathy, susceptibility to, 1 | Detection of HLA-B27 allele | 28 days | LV2297 | +Info |
| Osteogenesis Imperfecta | Detection of large deletions and/or duplications in the COL1A1 gene by MLPA | 28 days | LV0972 | +Info |
| Osteogenesis Imperfecta | Detection of large deletions and/or duplications in the COL1A2 gene by MLPA | 28 days | LV0973 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | Detection of large deletions and/or duplications in the COL3A1 gene by MLPA | 28 days | LV0889 | +Info |
| Fanconi Anemia | Detection of large deletions and/orduplications in the FANCA gene by MLPA | 35 days | LV1586 | +Info |
| CMT disease:Screening frequent mutations in Gypsie populations | Detection of mutations:p.C737X and p.R1109X inSH3TC2 gene, p.R148X in NDRG1 gene andc.-40237G>C in HK1 gene | 42 days | LV1555 | +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 |
| Charcot-Marie-Tooth disease, type 1A | Duplication detection of the PMP22 gene by MLPA | 28 days | LV1461 | +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 |
| Brachydactyly, type D and E; Syndactyly, type V; Synpolydactyly 1 | Large deletions and duplications detection in the GLI3 and HOXD13 genes by MLPA | 35 days | LV3615 | +Info |
| Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Polydactyly, preaxial, type IV | Large deletions and duplications detection in the GLI3 and HOXD13 genes by MLPA | 35 days | LV3615 | +Info |
| Avascular necrosis of the femoral head | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Legg-Calve-Perthes disease | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Osteoarthritis with mild chondrodysplasia | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Bruck Syndrome 2 | Next Generation Sequencing and Sanger Sequencing of the PLOD2 gene | 42 days | LV1338 | +Info |
| Cutis Laxa autosomal dominant | Next Generation Sequencing and Sanger Sequencing of the ELN gene | 42 days | LV1494 | +Info |
| Supravalvular Aortic Stenosis | Next Generation Sequencing and Sanger Sequencing of the ELN gene | 42 days | LV1494 | +Info |
| Ehlers-Danlos syndrome type 1 | Next Generation Sequencing and Sanger Sequencing of the COL5A2 gene | Consult | LV0728 | +Info |
| Congenital contractural arachnodactyly (Beals Syndrome) | Next Generation Sequencing and Sanger Sequencing of the FBN2 | 42 days | LV1435 | +Info |
| Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficie | Next Generation Sequencing and Sanger Sequencing of the TNXB gene | 42 days | LV0925 | +Info |
| Ehlers-Danlos Syndrome, type III | Next Generation Sequencing and Sanger Sequencing of the TNXB gene | 42 days | LV0925 | +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 |
| Ehlers-Danlos syndrome, occipital horn type, Menkes syndrome and . Cardiac valvular dysplasia, X-linked, | Next Generation Sequencing of 2 gene panel: ATP7A, FLNA | 42 days | LV2179 | +Info |
| Osteogenesis Imperfecta, type III | Next Generation Sequencing of 2 gene panel: COL1A1, COL1A2 | 42 days | LV2260 | +Info |
| Osteogenesis Imperfecta, type II | Next Generation Sequencing of 2 gene panel: COL1A1, COL1A2 | 42 days | LV2260 | +Info |
| Osteogenesis Imperfecta, type IV | Next Generation Sequencing of 2 gene panel: COL1A1, COL1A2 | 42 days | LV2260 | +Info |
| Osteoporosis-pseudoglioma syndrome, Geroderma osteodysplasticum | Next Generation Sequencing of 2 gene panel: GORAB, LRP5. | 42 days | LV2227 | +Info |
| Spondyloepiphyseal dysplasia tarda with progressive arthropathy, AR, Spondyloepiphyseal dysplasia tarda, X-linked | Next Generation Sequencing of 2 gene panel: TRAPPC2, WISP3. | 42 days | LV2194 | +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 |
| Avascular necrosis of the femoral head, AD, Ossification of posterior longitudinal ligament of spine AR, Acrocapitofemoral dysplasia AR, Legg-Calve-Perthes disease | Next Generation Sequencing of 3 gene panel: COL2A1, ENPP1, IHH. | 42 days | LV2192 | +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 |
| Filamin group and related disorders: Frontometaphyseal dysplasia, Atelosteogenesis 1, 3, FG 2, Melnick-Needles, Larsen, Frank-ter Haar syndromes , Otopalatodigital t | Next Generation Sequencing of 3 gene panel: FLNA, FLNB, SH3PXD2B. | 42 days | LV2203 | +Info |
| Patellar dysostoses: Nail-patella syndrome, Small patella syndrome, Small patella - like syndrome with clubfoot | Next Generation Sequencing of 3 gene panel: LMX1B, PITX1, TBX4. | 42 days | LV2238 | +Info |
| Trichodontoosseous syndrome, Odontoonychodermal dysplasia AR, Hajdu-Cheney syndrome o Arthrodentoosteodysplasia, Schopf-Schulz-Passarge syndrome | Next Generation Sequencing of 3 gene panel: DLX3, NOTCH2, WNT10A | 42 days | LV2187 | +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 |
| Spondyloepiphyseal dysplasias (SED) AD, types: Kimberley; SED with congenital joint dislocations. SED with precocious osteoarthritis; SED congénita, SED Maroteaux, Spondy | Next Generation Sequencing of 4 gene panel: ACAN, CHST3, COL2A1, TRPV4. | 42 days | LV2193 | +Info |
| Limb hypoplasia reduction defects group: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Orofacial cleft 5, 8; Split-hand/foot malformation 4, 6; Ac | Next Generation Sequencing of 4 gene panel: LMBR1, TP63, WNT3, WNT10B. | 42 days | LV2242 | +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 |
| Brachydactyly, types A1, A2, B1, B2, C, D, E, AD. Brachydactyly-syndactyly syndrome. | Next Generation Sequencing of 5 gene panel: ESCO2, RECQL4, TP63, TBX15, WNT7A | 42 days | LV2241 | +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 |
| Ehlers-Danlos syndrome, type I, II, III, IV, VIIA, VIIB, autosomal dominant, E-D hypermobility type, AD. | Next Generation Sequencing of 6 gene panel: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB. | 42 days | LV2177 | +Info |
| Defects in joint formation and synostoses: Multiple synostoses syndrome type 1, 2, 3. Proximal symphalangism type 1, 2. Radio-ulnar synostosis with amegakaryocytic thromb | Next Generation Sequencing of 6 gene panel: FGF9, FLNB, GDF5, HOXA11, NOG, TTR. | 42 days | LV2244 | +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 |
| Polydactyly-Syndactyly-Triphalangism group: Greig cephalopolysyndactyly; Pallister-Hall syndromes, Cenani-Lenz syndactyly, Preaxial polydactyly types 2, 4; Polydactyly, postaxial | Next Generation Sequencing of 6 gene panel: GLI3, HOXD10, HOXD13, LMBR1, LRP4, PITX1. | 42 days | LV2243 | +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 |
| 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 |
| Ehlers-Danlos syndrome, types VI, VIB, VIIC, E-D musculocontractural type, E-D cardiac valvular form, E-D syndrome-like, E-D, due to tenascin X deficiency, autosomal recessive, Homocystinur | Next Generation Sequencing of 8 gene panel: ADAMTS2, CHST14, CBS, COL1A2, PLOD1, SLC39A13, TNXB, ZNF469. | 42 days | LV2178 | +Info |
| Next Generation Sequencing of 8 gene panel: COL2A1, DYM, DDR2, EIF2AK3, MATN3, NKX3-2, SLC39A13, TRAPPC2. | 42 days | LV2210 | +Info | |
| Acromicric dysplasia | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Atrial fibrillation, familial, 12 | NGS and Sanger sequencing of ABCC9 gene | 42 days | LV2518 | +Info |
| Osteochondritis dissecans, short stature, and early-onset osteoarthrit | NGS and Sanger sequencing of ACAN gene | 42 days | LV1705 | +Info |
| Spondyloepimetaphyseal dysplasia, aggrecan type | NGS and Sanger sequencing of ACAN gene | 42 days | LV1705 | +Info |
| Spondyloepiphyseal dysplasia, Kimberley type | NGS and Sanger sequencing of ACAN gene | 42 days | LV1705 | +Info |
| Arthrogryposis multiplex congenital, distal, type 2B | NGS and Sanger sequencing of MYH3 gene | 42 days | LV2531 | +Info |
| Arthrogryposis, distal, type 2A | NGS and Sanger sequencing of MYH3 gene | 42 days | LV2531 | +Info |
| Hypermobility and anterior cruciate ligament injury | NGS and Sanger Sequencing of the COL12A1 gene | 42 days | LV2255 | +Info |
| Ehlers-Danlos syndrome type 1 | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Ehlers-Danlos syndrome, type VIIA | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Osteogenesis Imperfecta, type III | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Osteogenesis Imperfecta, type II | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Osteogenesis Imperfecta, type IV | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Osteogenesis Imperfecta | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Ehlers-Danlos syndrome, Type VIIB | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Osteogenesis Imperfecta, type III | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Osteogenesis Imperfecta, type II | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Osteogenesis Imperfecta, type IV | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Avascular necrosis of the femoral head | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Legg-Calve-Perthes disease | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Osteoarthritis with mild chondrodysplasia | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Ehlers-Danlos Syndrome, type III | NGS and Sanger Sequencing of the COL3A1 gene | 42 days | LV2264 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | NGS and Sanger Sequencing of the COL3A1 gene | 42 days | LV2264 | +Info |
| Ehlers-Danlos syndrome type 1 | NGS and Sanger Sequencing of the COL5A1 gene | 42 days | LV2262 | +Info |
| Ehlers-Danlos syndrome, type II | NGS and Sanger Sequencing of the COL5A1 gene | 42 days | LV2262 | +Info |
| Ossification of posterior longitudinal ligament of spine | NGS and Sanger Sequencing of the ENPP1 gene | 42 days | LV1840 | +Info |
| Hyperostosis Corticalis generalisata | NGS of 2 genes: LRP5, SOST | 42 days | LV2321 | +Info |
| Craniosynostosis | NGS of 3 genes: EFNB1, MSX2, TWIST1 | 42 days | LV2322 | +Info |
| Ehlers-Danlos syndrome type 1 | NGS of two genes: COL5A1, COL5A2. | 42 days | LV2949 | +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 |
| RASopathies syndromes | NGS of a 20-gene panel: A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 | 42 days | LV3949 | +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 |
| Charcot-Marie-Tooth disease, type 2A2 | Sanger Sequencing of MFN2 gene | 42 days | LV0495 | +Info |
| Fibrodysplasia Ossificans Progressiva | Sanger Sequencing of the ACVR1 gene | 42 days | LV0924 | +Info |
| Weill-Marchesani syndrome 1, recessive | Sanger Sequencing of the ADAMTS10 gene | 42 days | LV1708 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Sanger sequencing of the AGXT gene | 53 days | LV3674 | +Info |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1 | Sanger sequencing of the B3GALT6 gene | 42 days | LV4142 | +Info |
| Homocystinuria, B6-responsive and nonresponsive types | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Metaphyseal chondrodysplasia, Schmid type | Sanger sequencing of the COL10A1 gene | 47 days | LV2574 | +Info |
| Pseudoachondroplasia | Sanger Sequencing of the COMP gene | 28 days | LV0446 | +Info |
| Charcot-Marie-Tooth disease, types 1D and 4E | Sanger Sequencing of the EGR2 gene | 28 days | LV0205 | +Info |
| Fanconi Anemia | Sanger Sequencing of the FANCA gene | 42 days | LV1847 | +Info |
| Mucopolysaccharidosis Type IVA | Sanger Sequencing of the GALNS gene | 56 days | LV1343 | +Info |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth disease, recessive intermediate, A | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth disease, type 4A | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth Neuropathy Type 2K | Sanger Sequencing of the GDAP1 gene | 28 days | LV0202 | +Info |
| Charcot-Marie-Tooth disease, X-linked type | Sanger sequencing of the GJB1 (Conexin 32) gene including promoter and UTR regions | 53 days | LV3760 | +Info |
| Mucopolysaccharidosis Type II | Sanger Sequencing of the IDS gene | Consult | LV1152 | +Info |
| Charcot-Marie-Tooth Neuropathy Type 1C | Sanger Sequencing of the LITAF gene | Consult | LV1147 | +Info |
| Nail Patella syndrome | Sanger Sequencing of the LMX1B gene | 63 days | LV0341 | +Info |
| Charcot-Marie-Tooth disease, type 1B | Sanger Sequencing of the MPZ gene | 28 days | LV0203 | +Info |
| Charcot-Marie-Tooth Disease, Type 4B1 | Sanger sequencing of the MTMR2 gene | 56 days | LV0568 | +Info |
| Ehlers-Danlos syndrome, type VI | Sanger Sequencing of the PLOD1 gene | 35 days | LV2587 | +Info |
| Charcot-Marie-Tooth disease, type 1A | Sanger Sequencing of the PMP22 gene | 28 days | LV0201 | +Info |
| Failure of tooth eruption, primary | Sanger Sequencing of the PTH1R gene | 42 days | LV2575 | +Info |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Cartilage-Hair Hypoplasia | Sanger Sequencing of the RMRP gene | 53 days | LV1114 | +Info |
| Mononeuropathy of the median nerve, mild | Sanger Sequencing of the SH3TC2 gene | 42 days | LV2570 | +Info |
| Marinesco-Sjogren syndrome | Sanger Sequencing of the SIL1 gene | 35 days | LV2470 | +Info |
| Osteopetrosis, autosomal recessive 1 | Sanger Sequencing of the TCIRG1 gene | 49 days | LV2914 | +Info |
| Arthrogryposis multiplex congenital, distal, type 2B | Sanger sequencing of the TNNI3 gene | 28 days | LV1347 | +Info |
| Arthrogryposis Multiplex Congenita Distal Type 1 | Sanger Sequencing of the TPM2 gene | Consult | LV1257 | +Info |
| Digital arthropathy-brachydactyly, familial | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Spondylometaphyseal dysplasia, Kozlowski type | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |
| Rickets, vitamin D-resistant, type IIA | Sanger sequencing of the VDR gene | 35 days | LV4111 | +Info |
| Osteogenesis imperfecta, type XV | Sanger sequencing of the WNT1 gene | 84 days | LV3278 | +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 |