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| Disease | Modality | Delivery | Reference | Data sheet |
|---|---|---|---|---|
| Cleidocranial dysplasia and isolated cranial ossification defects group: Cleidocranial dysplasia, Parietal foramina | Detection of deletions and/or duplications in genes ALX4, MSX2 and RUNX2 by MLPA | 28 days | LV3046 | +Info |
| Cleidocranial dysplasia and isolated cranial ossification defects group: Cleidocranial dysplasia, Parietal foramina | Next Generation Sequencing of gene panel: ALX4, MSX2, RUNX2. | 42 days | LV2234 | +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 |
| Epidermólisis distrófica ampollosa, pruriginosa, pretibial y tipo Barth, AD. Epidermólisis ampollosa juntural y tipos no-Herlitz, inversa, AR y Dermólisis ampollosa transitoria del recién | Next Generation Sequencing of 2 gene panel: COL17A1, COL7A1. | 42 days | LV2191 | +Info |
| Fetal akinesia deformation sequence, | Next Generation Sequencing of 2 gene panel: DOK7, RAPSN | 42 days | LV2183 | +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 |
| Frontometaphyseal dysplasia | Next Generation Sequencing of 2 gene panel: ALX3 and ALX4 | 42 days | LV1582 | +Info |
| Frontometaphyseal dysplasia | Next Generation Sequencing of 2 gene panel: ALX3 and ALX4 and detection of large deletions and/or duplications in the ALX1, ALX3 & ALX4 genes by MLPA | 42 days | LV1583 | +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 |
| Atelosteogenesis, type I, III, AD, Atelosteogenesis II AR, De la Chapelle dysplasia. | Next Generation Sequencing of 2 gene panel: FLNB, SLC26A2 | 42 days | LV2200 | +Info |
| Weill-Marchesani 1, recessive & Weill-Marchesani-like syndrome, Geleophysic dysplasia 1. | Next Generation Sequencing of 3 gene panel: ADAMTS10, ADAMTS17, ADAMTSL2. | 42 days | LV2186 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Severe polymalformative disorders: Bohring-Opitz syndrome AD, Rothmund-Thomson syndrome, Microcephalic osteodysplastic primordial dwarfism, type I, Microphthalmia, syndromic 3. | Next Generation Sequencing of 4 gene panel: ASXL1, RECQL4, RNU4ATAC, SOX2 | 42 days | LV2189 | +Info |
| Sulphation disorders group: Achondrogenesis 1B, Atelosteogenesis 2, Diastrophic dysplasia, Multiple Epiphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Larsen and Ehlers-Danlos musculo-co | Next Generation Sequencing of 4 gene panel: CHST14, CHST3, PAPSS2, SLC26A2 | 42 days | LV2201 | +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 |
| Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, Amelogenesis imperfecta, types IB, 3, Amelogenesis imperfecta, hypomaturation type, IIA3 AD | Next Generation Sequencing of 4 gene panel: DLX3, ENAM, FAM83H, WDR72 | 42 days | LV2197 | +Info |
| Asphyxiating thoracic dysplasia (ATD; Jeune) types 2, 3, 4, 5. | Next Generation Sequencing of 4 gene panel: DYNC2H1, IFT80, TTC21B, WDR19. | 42 days | LV2206 | +Info |
| Craniosynostosis syndromes: Baller-Gerold syndrome, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome with eyelid anomalies, Saethre-Chotzen syndrome, Pfeiffer 1 syndrome, Craniosynostosis Bo | Next Generation Sequencing of 4 gene panel: IL11RA, MSX2, RECQL4, TWIST1. | 42 days | LV2235 | +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 |
| 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 |
| Dentinogenesis imperfecta, Shields type II, III, Dentin dysplasia, type II, Failure of tooth eruption, primary, Tooth agenesis, selective, 4, AD, Tooth agenesis, select | Next Generation Sequencing of 4 gene panel: DSPP, MSX1, PTH1R, WNT10A. | 42 days | LV2199 | +Info |
| Amelogenesis imperfecta, type IC, IIA1, IIA2, Amelogenesis imperfecta and gingival fibromatosis syndrome, AR | Next Generation Sequencing of 4 gene panel: ENAM, FAM20A, KLK4, MMP20 | 42 days | LV2198 | +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 |
| 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 |
| Marshall syndrome, Weissenbacher-Zweymuller syndrome, Knobloch syndrome, type 1, Kniest dysplasia, Wagner syndrome 1, | Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, COL18A1, VCAN | 42 days | LV2185 | +Info |
| Achondrogenesis, type II or hypochondrogenesis, Achondrogenesis IA, IB, Fibrochondrogenesis, autosomal recessive. | Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, SLC26A2, TRIP11. | 42 days | LV2196 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 1, 2 AR. Arthrogryposis, lethal, with anterior horn cell disease. Lethal congenital contracture syndrome 1, Myosclerosis, | Next Generation Sequencing of 5 gene panel: COL6A2, GLE1, PLOD3, VIPAS39, VPS33B | 42 days | LV2182 | +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 |
| 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 |
| Brachydactylies (with or without extraskeletal manifestations): Temtamy preaxial brachydactyly syndrome, Guttmacher syndrome, Hand-foot-uterus syndrome, Keutel syndrome, Albrig | Next Generation Sequencing of 5 gene panel: CHSY1, GNAS, HOXA13, MGP, SOX9. | 42 days | LV2239 | +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 |
| Dysostoses with predominant vertebral with and without costal involvement: Diaphanospondylodysostosis, Klippel-Feil syndrome 1, autosomal dominant, Spondylocostal dysostosis t | Next Generation Sequencing of 6 gene panel: BMPER, DLL3, GDF6, HES7, LFNG, MESP2. | 42 days | LV2237 | +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 |
| 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 |
| 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 |
| 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 |
| Frontonasal dysplasia 1, 2 & Craniofrontonasal dysplasia AD, AR, LX., Frontometaphyseal dysplasia, Craniometaphyseal dysplasia AD, Craniodiaphyseal dysplasia, autosomal dominant. | Next Generation Sequencing of 6 gene panel: ALX3, ALX4, ANKH, EFNB1, FLNA, SOST. | 42 days | LV2195 | +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 |
| Arthrogryposis, distal, types 1B, 2A, 2B, 7. Arthrogryposis multiplex congenita, distal, types 1A, 2B, AD, Carney complex variant. | Next Generation Sequencing of 6 gene panel: MYBPC1, MYH3, MYH8, TNNI2, TNNT3, TPM2 | 42 days | LV1681 | +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 |
| Brachydactyly, types A1, A2, B1, B2, C, D, E, AD. Brachydactyly-syndactyly syndrome. | Next Generation Sequencing of 7 gene panel: BMPR1B, GDF5, HOXD13, IHH, NOG, PTHLH, ROR2. | 42 days | LV2240 | +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 |
| 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 |
| Dysostoses with predominant craniofacial involvement: Frontonasal dysplasia, 1, 2. Miller syndrome (postaxial acrofacial dysostosis). Craniofrontonasal or Treacher Collins sy | Next Generation Sequencing of 8 gene panel: ALX3, ALX4, DHODH, EFNB1, EVC, EVC2, POLR1C, TCOF1. | 42 days | LV2236 | +Info |
| Next Generation Sequencing of 8 gene panel: COL2A1, DYM, DDR2, EIF2AK3, MATN3, NKX3-2, SLC39A13, TRAPPC2. | 42 days | LV2210 | +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 |
| Baller-Gerold syndrome | NGS and Sanger Sequencing of the RECQL4 gene | 42 days | LV2022 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | NGS and Sanger Sequencing of the VIPAS39 gene | 42 days | LV2094 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | NGS and Sanger Sequencing of the VPS33B gene | 42 days | LV2096 | +Info |
| Hyperostosis, endosteal | Sanger Sequencing of the LRP5 gene | 42 days | LV1929 | +Info |
| Arthrogryposis multiplex congenital, distal, type 2B | Sanger sequencing of the TNNI3 gene | 28 days | LV1347 | +Info |
| TRPV4 group: Metatropic dysplasia, Spondyloepimetaphyseal dysplasia, Maroteaux type, Spondylometaphyseal dysplasia, Kozlowski type, Brachyolmia, Familial digital arthropathy with brachydactyly | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +Info |