| Genomic array (CNV + SNPs), postnatal | Array CytoScan 750K | 35 days | LV3490 | +Info |
| Genomic array (CNV + SNPs), postnatal | Array CytoScan HD | 35 days | LV3489 | +Info |
| Beckwith-Wiedemann syndrome | Beckwith-Wiedemann Síndrome Study by Uniparental Disomy detection of chromosome 11 | 28 days | LV0458 | +Info |
| Uniparental Disomy, chromosome 14 | Chromosome 14 paternal uniparental disomy by MS-MLPA | 35 days | LV3983 | +Info |
| Russell-Silver, Syndrome | Chromosome 7 paternal uniparental disomy by MS-MLPA | 35 days | LV3902 | +Info |
| Uniparental Disomy, chromosome 7 | Chromosome 7 paternal uniparental disomy by MS-MLPA | 35 days | LV3902 | +Info |
| 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 |
| Genomic array (CNV + SNPs), postnatal | Clinical Interpretation of arrays | 42 days | LV2409 | +Info |
| Williams-Beuren syndrome (WBS) | Detection of deletions and duplications in the 7q11.2 genomic region by MLPA | 28 days | LV0245 | +Info |
| Menkes disease | Detection of deletions and duplications in the ATP7A gene by MLPA | 28 days | LV2298 | +Info |
| Bartter syndrome type 3 | Detection of deletions and duplications in the CLCNKB gene by MLPA | 28 days | LV3849 | +Info |
| Tay-Sachs disease | Detection of deletions and duplications in the HEXA gene by MLPA | 28 days | LV4079 | +Info |
| Alagille, type 1 syndrome | Detection of deletions and duplications in the JAG1 gene by MLPA | 28 days | LV2302 | +Info |
| Albinism, Oculo-cutaneous type II | Detection of deletions and duplications in the OCA2 gene by MLPA | 28 days | LV2301 | +Info |
| Gitelman Syndrome | Detection of deletions and duplications in the SLC12A3 gene by MLPA | 28 days | LV3848 | +Info |
| Hypogonadotropic hypogonadism 1 with or without anosmia | Detection of deletions and/or duplications in ANOS1 gene by MLPA. | 28 days | LV2894 | +Info |
| Epileptic encephalopathy, early infantile, 1 | Detection of deletions and/or duplications in ARX and CDKL5 genes by MLPA | 28 days | LV3785 | +Info |
| Epileptic encephalopathy, early infantile, 2 | Detection of deletions and/or duplications in ARX and CDKL5 genes by MLPA | 28 days | LV3785 | +Info |
| Aarskog-Scott syndrome | Detection of deletions and/or duplications in FGD1 gene by MLPA | 28 days | LV2320 | +Info |
| 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 |
| Epileptic encephalopathy, early infantile, 27 | Detection of deletions and/or duplications in GRIN2A and GRIN2B CDKL5 genes by MLPA | 28 days | LV3786 | +Info |
| Cornelia de Lange Syndrome | Detection of deletions and/or duplications in NIPBL gene by MLPA. | 28 days | LV2545 | +Info |
| Epileptic encephalopathy, early infantile, 9; Juberg-Hellman syndrome | Detection of deletions and/or duplications in PCDH19 gene by MLPA | 28 days | LV3787 | +Info |
| Townes-Brocks Syndrome | Detection of deletions and/or duplications in SALL1 gene by MLPA | 28 days | LV3086 | +Info |
| Epileptic encephalopathy, early infantile, 4 | Detection of deletions and/or duplications in STXBP1 gene by MLPA | 28 days | LV3788 | +Info |
| Aniridia | Detection of deletions and/or duplications in the PAX6 and WT1 genes by MLPA | 28 days | LV2674 | +Info |
| Spinocerebellar ataxia, autosomal recessive 12 | Detection of deletions and/or duplications in WWOX gene by MLPA | 28 days | LV3789 | +Info |
| Myotonia Congenita | Detection of deletions and/or duplications inCLCN1 gene by MLPA. | 28 days | LV2645 | +Info |
| Rubinstein-Taybi Syndrome | Detection of deletions and/or duplications inCREBBP gene by MLPA | 28 days | LV3731 | +Info |
| Septooptic Dysplasia | Detection of deletions and/or duplicationsin HESX1 gene by MLPA | 28 days | LV3160 | +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 |
| Pitt-Hopkins syndrome | Detection of deletions and/or duplicationsin TCF4 gene by MLPA | 28 days | LV3082 | +Info |
| Smith-Lemli-Opitz Syndrome | Detection of deletions/duplications in the DHCR7 gene by MLPA | 28 days | LV4210 | +Info |
| Glycogen Storage Disease Type II (Pompe Disease) | Detection of deletions/duplications in the GAA gene by MLPA | 28 days | LV4159 | +Info |
| Optic atrophy 1 | Detection of deletions/duplications in the OPA1 gene by MLPA | 28 days | LV4120 | +Info |
| Capillary and Arteriovenous Malformations | Detection of large delections orduplications in RASA1 gene by MLPA | 28 days | LV3612 | +Info |
| Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | Detection of large deletions / duplications inthe CYP1B1 gene by MLPA | 28 days | LV3231 | +Info |
| Dravet syndrome | Detection of large deletions and/or duplications in SCN1A gene by MLPA | 28 days | LV2329 | +Info |
| Saethre-Chotzen syndrome | Detection of large deletions and/or duplications in the TWIST1 gene by MLPA | 28 days | LV2247 | +Info |
| Axenfeld-Rieger Syndrome | Detection of large deletions and/or duplications in FOXC1 gene by MLPA | 28 days | LV1567 | +Info |
| Rett syndrome | Detection of large deletions and/or duplications in FOXG1 gene by MLPA | 28 days | LV1259 | +Info |
| Sotos Syndrome | Detection of large deletions and/or duplications in NSD1 gene by MLPA | 28 days | LV1148 | +Info |
| Polycystic Kidney Disease, autosomal recessive | Detection of large deletions and/or duplications in PKHD1 gene by MLPA | 42 days | LV1426 | +Info |
| Short stature, idiopathic familial | Detection of large deletions and/or duplications in SHOX gene by MLPA | 28 days | LV0692 | +Info |
| Legius syndrome | Detection of large deletions and/or duplications in SPRED1 gene by MLPA | 28 days | LV1580 | +Info |
| Holt Oram syndrome | Detection of large deletions and/or duplications in TBX5 gene by MLPA | 28 days | LV2328 | +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 |
| 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 |
| 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 |
| Epilepsy Benign Neonatal | Detection of large deletions and/or duplications in the KCNQ2 gene by MLPA | 28 days | LV1116 | +Info |
| Rett syndrome | Detection of large deletions and/or duplications in the MECP2 gene by MLPA | 28 days | LV0956 | +Info |
| Niemann-Pick disease | Detection of large deletions and/or duplications in the NPC1 gene by MLPA | 28 days | LV3893 | +Info |
| Coffin-Lowry syndrome | Detection of large deletions and/or duplications in the RPS6KA3 gene by MLPA | 28 days | LV1537 | +Info |
| Spinal muscular atrophy | Detection of large deletions and/or duplications in the SMN1, SMN2 genes by MLPA | 28 days | LV2294 | +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 |
| Glycine encephalopathy | Detection of large deletions and/or duplicationsin the GLDC gene by MLPA | 28 days | LV3399 | +Info |
| Waardenburg syndrome, type 1 | Detection of large deletions and/or duplicationsin the PAX3 gene by MLPA | 28 days | LV3536 | +Info |
| Waardenburg syndrome, type 3 | Detection of large deletions and/or duplicationsin the PAX3 gene by MLPA | 28 days | LV3536 | +Info |
| Campomelic Dysplasia | Detection of large deletions and/or duplicationsin the SOX9 gene by MLPA | 35 days | LV3291 | +Info |
| Treacher Collins syndrome | Detection of large deletions and/or duplicationsin the TCOF1 gene by MLPA | 28 days | LV1549 | +Info |
| Fanconi Anemia | Detection of large deletions and/orduplications in the FANCA gene by MLPA | 35 days | LV1586 | +Info |
| Cohen Syndrome | Detection of large deletions and/orduplications in the VPS13B gene by MLPA | 35 days | LV3297 | +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 |
| Achondroplasia | Detection of the 1138G>A, 1138G>C and 1123G>Tmutations in the FGFR3 gene | 28 days | LV0048 | +Info |
| 22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) | Detection of the 22q11.2 deletion by MLPA | 28 days | LV1690 | +Info |
| Gonadal Dysgenesis (XY Female) | Determination of the presence or absence of the SRY gene by PCR | 28 days | LV0226 | +Info |
| XX Male syndrome | 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 |
| Central Hypoventilation Syndrome, Congenital | Expansion detection in the PHOX2B gene | 28 days | LV2253 | +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 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis | Hexanucleotide expansion detection in a noncoding region of the C9ORF72 gene | 42 days | LV1551 | +Info |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
| CHARGE Syndrome | Large deletion and duplication detection in theCHD7 gene by MLPA | 35 days | LV3610 | +Info |
| Trichorhinophalangeal syndrome, type III | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +Info |
| Trichorhinophalangeal syndrome, type I | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +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 |
| Central Hypoventilation Syndrome, Congenital | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Medullary thyroid carcinoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Optic nerve hypoplasia and abnormalities of the central nervous system | Large deletions and duplications detection in theSOX2 gene by MLPA | 35 days | LV3468 | +Info |
| Stickler type I Syndrome (achondrogenesis type I) | Large deletions and duplications in the COL2A1gene by MLPA | 35 days | LV3622 | +Info |
| Beckwith-Wiedemann syndrome | Methylation analysis in the 11p15 region, H19, IGF2, CDKN1C, KCNQ1 by MLPA | 42 days | LV2104 | +Info |
| Russell-Silver, Syndrome | Methylation analysis in the 11p15 region, H19, IGF2, CDKN1C, KCNQ1 by MLPA | 42 days | LV2104 | +Info |
| Prader-Willi syndrome | Methylation study in the PWS/AS genomic region and duplications, by MS-MLPA | 42 days | LV1464 | +Info |
| Usher Syndrome and Non-Syndromic Deafness | Mutation panel in genes ADGRV1, CDH23CLRN1, DFNB31, MYO7A, PCDH15, USH1C,USH1G, USH1G | 84 days | LV1297 | +Info |
| Bruck Syndrome 2 | Next Generation Sequencing and Sanger Sequencing of the PLOD2 gene | 42 days | LV1338 | +Info |
| Stickler type I Syndrome (achondrogenesis type I) | Next Generation Sequencing and Sanger Sequencing of the COL11A1 gene | 28 days | LV0950 | +Info |
| Transient Bullous Dermolysis of the Newborn | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
| Glycogen Storage Disease Type II (Pompe Disease) | Next Generation Sequencing and Sanger Sequencing of the GAA gene | 42 days | LV1149 | +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 |
| 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 |
| Jervell-Lange-Nielsen syndrome | Next Generation Sequencing of 2 gene panel: KCNE1, KCNQ1. | 42 days | LV1545 | +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 |
| 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 |
| Hearing loss secondary to kidney diseases | Next Generation Sequencing of 3 gene panel: BSND, GATA3, MYH9. | 42 days | LV1544 | +Info |
| Multiple pterygium syndrome, lethal type and Escobar syndrome | Next Generation Sequencing of 3 gene panel: CHRNA1, CHRND, CHRNG | 42 days | LV1677 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Leukoencephalopathy with vanishing white matter and Ovarioleukodystrophy | Next Generation Sequencing of 5 gene panel: EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5. | 42 days | LV1640 | +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 |
| 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 |
| 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 |
| Arthrogryposis, distal, autosomal dominant | Next Generation Sequencing of 6 gene panel: MYBPC1, MYH3, MYH8, TNNI2, TNNT3, TPM2 | 42 days | LV1681 | +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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Dravet syndrome | NGS and bioinformatic CNV screening of the SCN1A gene | 28 days | LV4184 | +Info |
| Epilepsy, generalized, with febrile seizures plus, type 3 | NGS and bioinformatic CNV screening of the SCN1A gene | 28 days | LV4184 | +Info |
| Febrile seizures, familial, 3A | NGS and bioinformatic CNV screening of the SCN1A gene | 28 days | LV4184 | +Info |
| Spinal muscular atrophy | NGS and bioinformatic CNVs screening, 16-gene panel: AR,ASAH1,ASCC1,ATP7A,BICD2,CHCHD10,DNAJB2,DYNC1H1,IGHMBP2,PLEKHG5,SIGMAR1,TRIP4,TRPV4,UBA1,VAPB,VRK1, | 49 days | LV4261 | +Info |
| Parkinson Disease | NGS and bioinformatic CNVs screening, 19-gene panel: ATP13A2,CHCHD2,DNAJC6,EIF4G1,FBXO7,GBA,GIGYF2,HTRA2,LRRK2,MAPT,PARK7,PINK1,PLA2G6,PRKN,SNCA,SYNJ1,UCHL1,VPS13C,VPS35, | 49 days | LV4246 | +Info |
| Joubert Syndrome | NGS and bioinformatic CNVs screening, 28-gene panel: AHI1,ARL13B,B9D1,C5orf42,CC2D2A,CEP104,CEP120,CEP290,CEP41,CSPP1,INPP5E,KIAA0556,KIAA0586,MKS1,NPHP1,PDE6D,PIBF1,RPGRIP1L,SUFU,TCTN1,TCTN2,TCTN3,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,ZNF423, | 49 days | LV4236 | +Info |
| Neuropathy, congenital hypomyelinating | NGS and bioinformatic CNVs screening, 3-gene panel: CNTNAP1,EGR2,MPZ, | 49 days | LV4265 | +Info |
| Capillary and Arteriovenous Malformations | NGS AND Sanger sequencing of the RASA1 gene | 42 days | LV3110 | +Info |
| Acromicric dysplasia | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| 3-M syndrome 1 | NGS and Sanger Sequencing of CUL7 gene | 42 days | LV1816 | +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 |
| Menkes disease | NGS and Sanger Sequencing of the ATP7A gene | 42 days | LV1730 | +Info |
| Caffey disease | 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 |
| Stickler type I Syndrome (achondrogenesis type I) | NGS and Sanger Sequencing of the COL2A1 gene | 42 days | LV2261 | +Info |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle | NGS and Sanger Sequencing of the COL4A1 gene | 42 days | LV2408 | +Info |
| Porencephaly 1 | NGS and Sanger Sequencing of the COL4A1 gene | 42 days | LV2408 | +Info |
| Atelosteogenesis, type I | NGS and Sanger Sequencing of the FLNB gene | 42 days | LV1869 | +Info |
| Asphyxiating thoracic dystrophy 2 (Jeune syndrome) | NGS and Sanger Sequencing of the IFT80 gene | 42 days | LV1895 | +Info |
| Neuronopathy, distal hereditary motor, type VI | NGS and Sanger Sequencing of the IGHMBP2 gene | 42 days | LV2461 | +Info |
| Arthrogryposis, distal, type 1B | NGS and Sanger Sequencing of the MYBPC1 gene | 42 days | LV1947 | +Info |
| Cardiomyopathy, dilated, 1EE | NGS and Sanger Sequencing of the MYH6 gene | 42 days | LV1952 | +Info |
| Short rib-polydactyly syndrome, type II | NGS and Sanger Sequencing of the NEK1 gene | 42 days | LV1978 | +Info |
| Hajdu-Cheney syndrome | NGS and Sanger Sequencing of the NOTCH2 gene | 42 days | LV1979 | +Info |
| Microcephalic osteodysplastic primordial dwarfism, type II | NGS and Sanger Sequencing of the PCNT gene | 42 days | LV1992 | +Info |
| Meckel syndrome, type 5 | NGS and Sanger Sequencing of the RPGRIP1L gene | 42 days | LV2025 | +Info |
| Achondrogenesis, type IA | NGS and Sanger Sequencing of the TRIP11 gene | 42 days | LV2070 | +Info |
| Arthrogryposis, renal dysfunction, and cholestasis 2 | NGS and Sanger Sequencing of the VIPAS39 gene | 42 days | LV2094 | +Info |
| Seckel syndrome 1 | NGS and Sanger Sequencing of theATRgene | 42 days | LV1733 | +Info |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome; Polymicrogyria (P) bilateral frontoparietal; P. symmetric or asymmetric; P. with seizures; P. with optic nerve hypoplasia; | NGS of 10 gene panel: ADGRG1, AKT3, DYNC1H1, HEPACAM, OCLN, PIK3R2, RTTN, TUBA8, TUBB2B, TUBB3 | 42 days | LV2981 | +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 |
| Meckel, Syndrome | NGS of 11 gene panel: B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67. | 42 days | LV2982 | +Info |
| Adrenoleukodystrophy; Leukodystrophy, hypomyelinating; Hypomyelination, global cerebral; Deafness, dystonia, and cerebral hypomyelination (DDCH); | NGS of 12 gene panel: ABCD1, AIMP1, BCAP31, DARS, DARS2, FAM126A, GJC2, HSPD1, POLR3A, POLR3B, SLC25A12, TUBB4A. | 42 days | LV2990 | +Info |
| Pontocerebellar hypoplasia; Dandy-Walker malformation; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | NGS of 12 gene panel: CASK, CHMP1A, CDK16. EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1, ZIC1, ZIC4 | 42 days | LV3005 | +Info |
| Intellectual Disability, with epilepsy. | NGS of 13 gene panel: ARHGEF9, BCKDK, CNTNAP2, DLG1, DLGAP2, GRIN2A, KCNJ10, MEF2C, SLC4A10, SNIP1, SRPX2, STXBP1, SYN1. | 42 days | LV3002 | +Info |
| AMME complex, Androgen insensitivity, Norrie disease, Lowe, CHILD, Oral-facial-digital syndrome Pelizaeus-Merzbacher disease, TARP, Coffin-Lowry, Stocco dos Santos, Allan-Herndon-Dudley, MR X- | NGS of 14 gene panel: AMMECR1, AR, MAOA, NDP, NSDHL, OCRL, OFD1, PLP1, RBM10, RPS6KA3, SHROOM4, SLC16A2, UPF3B, ZC4H2 | 42 days | LV3019 | +Info |
| Microcephaly (M) primary; M. with or without Chorioretinopathy, lymphedema, mental retardation; Mental retardation and M. with pontine and cerebellar hypoplasia; M. with capillary malformation sy | NGS of 16 gene panel: ASPM, CASC5, CASK, CDK19, CDK5RAP2, CENPJ, CEP135, CEP152, KIF11, MCPH1, PHC1, PNKP, STAMBP, STIL, WDR62, ZNF335. | 42 days | LV2987 | +Info |
| Albinism related syndromic and non-syndromic. | NGS of 17 gene panel: AP3B1, BLOC1S3, BLOC1S6,C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4,HPS5, HPS6, LYST, OCA2, SLC24A5, SLC45A2,TYR, TYRP1. | 56 days | LV3477 | +Info |
| Angelman; Angelman -like; Prader-Willi; Rett; Variant Rett; Mowat-Wilson; Pitt-Hopkins; Christianson; Kleefstra; Smith-Magenis, syndromes | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Prader-Willi syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Rett syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Smiht-Magenis Syndrome | NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2 | 42 days | LV3007 | +Info |
| Joubert Syndrome | NGS of 23 gene panel: AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, INPP5E, KIF7, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423. | 42 days | LV2980 | +Info |
| Treacher Collins 2, Syndrome | NGS of 3 gene panel: POLR1C, POLR1D, TCOF1 | 42 days | LV3012 | +Info |
| Treacher Collins syndrome | NGS of 3 gene panel: POLR1C, POLR1D, TCOF1 | 42 days | LV3012 | +Info |
| Craniosynostosis | NGS of 3 genes: EFNB1, MSX2, TWIST1 | 42 days | LV2322 | +Info |
| Cholestasis, intrahepatic and Alagille syndrome | NGS of 4 gene panel: ABCB11, ATP8B1, ABCB4, JAG1. | 42 days | LV2455 | +Info |
| Homocystinuria, Methylmalonic acidemia and homocysteinemia, Homocystinuria-megaloblastic anemia. | NGS of 4 gene panel: CBS, HCFC1, MTHFR, MTR | 42 days | LV2999 | +Info |
| Homocystinuria, Methylmalonic acidemia and homocysteinemia, Homocystinuria-megaloblastic anemia. | NGS of 4 gene panel: CBS, HCFC1, MTHFR, MTR | 42 days | LV2999 | +Info |
| Neuronal migration defects | NGS of 45 gene panel: ADGRG1, AKT3, ALX4, ATP7A, ARX, CASK, CDK16, CDON, CHMP1A, EMX2, DKK1, DCX, DYNC1H1, EXOSC3, FLNA, GLI2, HCCS, HEPACAM, IGBP1, LAMB1, L1CAM, PAFAH1B1, PTCH1, OCLN, PIK3R2, RARS2, RELN, RTTN, SEPSECS, SHH, SIX3, TGIF1, TSEN2, TSEN34, TSEN54, TUBA8, TUBB2B, TUBB3, TUBA1A, VRK1, YWHAE, ZIC1, ZIC2, ZIC3, ZIC4, | 42 days | LV3026 | +Info |
| Robinow; Aarskog-Scott; Opitz GBBB; KBG, syndromes | NGS of 5 gene panel: ANKRD11, FGD1, MID1, ROR2, WNT5A | 42 days | LV3014 | +Info |
| Seckel syndrome | NGS of 5 gene panel: ATR, CENPJ, CEP152, NIN, RBBP8 | 42 days | LV2989 | +Info |
| Kabuki 1, 2; CHARGE; Townes-Brocks, syndromes | NGS of 5 gene panel: CHD7, KDM6A, KMT2D, MACROD2, SALL1 | 42 days | LV3013 | +Info |
| Cornelia de Lange syndrome | NGS of 5 gene panel: HDAC8, NIPBL, RAD21, SMC1A, SMC3 | 42 days | LV2993 | +Info |
| Aicardi-Goutieres syndrome | NGS of 6 gene panel: ADAR4, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 | 42 days | LV2979 | +Info |
| Central Hypoventilation Syndrome, Congenital | NGS of 6 gene panel: ASCL1, BDNF, EDN3, GDNF, PHOX2B, RET | 42 days | LV2986 | +Info |
| Albinism related syndromic and non-syndromic. | NGS of 7 gene panel: TYR, OCA2, TY$P1, SLC45A2, SLC24A5, C10orf11, GPR143 | Consult | LV3183 | +Info |
| Hydrocephalus (H), nonsyndromic; H. due to aqueductal stenosis; H. with congenital idiopathic intestinal pseudoobstruction; Hydranencephaly with abnormal genitalia; | NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2. | 42 days | LV3003 | +Info |
| Hydrocephalus due to aqueductal stenosis, Hirschsprung disease, Corpus callosum, partial agenesis of, Congenital cataracts, hearing loss, and neurodegeneration | NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2. | 42 days | LV3003 | +Info |
| Agenesis of the corpus callosum with: Frontonasal dysplasia ; Microphthalmia, syndromic 7; Mental retardation 28; Menkes disease, Occipital horn syndrome, VACTERL association. | NGS of 8 gene panel: ALX4, ATP7A, DYNC1H1, HCCS, IGBP1, L1CAM, YWHAE, ZIC3. | 42 days | LV3011 | +Info |
| Hermansky-Pudlak syndrome | NGS of 8 gene panel: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS4, HPS5, HPS6 | 42 days | LV2983 | +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 |
| Intellectual Disability, X-linked, syndromes: Partington, Proud, Hedera, Menkes, Oculofaciocardiodental, Lubs, Rett, Lujan-Fryns, Opitz-Kaveggia, Opitz GBBB, Borjeson-Forssman-Lehmann. | NGS of 8 gene panel: ARX, ATP6AP2, ATP7A, BCOR, MECP2, MED12, MID1, PHF6 | 42 days | LV3016 | +Info |
| Lissencephaly; Subcortical laminar heterotopia; Periventricular heterotopia. | NGS of 8 gene panel: ARX, DCX, FLNA, LAMB1, PAFAH1B1, RELN, TUBA1A, YWHAE | 42 days | LV2985 | +Info |
| Angelman, Angelman syndrome-like, Prader-Willi, Rett y Variant Rett, syndromes | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Prader-Willi syndrome | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +Info |
| Rett syndrome | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A | 42 days | LV3008 | +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 |
| Axenfeld-Rieger; Otopalatodigital; Velocardiofacial; Speech-language disorder-1; Orofacial cleft 7; Orofaciodigital syndrome; Branchiooculofacial, syndromes | NGS of 8 gene panel: FOXC1, PITX2, FLNA, TBX1, FOXP2, PVRL1, TCTN3, TFAP2A | 42 days | LV3010 | +Info |
| Intellectual disability with macrosomia: Simpson-Golabi-Behmel, Sotos, Weaver syndrome, Lujan-Fryns, Marshall-Smith syndromes | NGS of 8 gene panel: GPC3, GPC4, OFD1, EZH2, NRCAM, NFIX, NSD1, MED12 | 42 days | LV3004 | +Info |
| Simpson-Golabi-Behmel Syndrome | NGS of 8 gene panel: GPC3, GPC4, OFD1, EZH2, NRCAM, NFIX, NSD1, MED12 | 42 days | LV3004 | +Info |
| Holoprosencephaly | NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 | 42 days | LV3006 | +Info |
| Schizencephaly | NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2 | 42 days | LV3006 | +Info |
| CHARGE Syndrome | NGS of CHD7 gene | 28 days | LV3930 | +Info |
| Rubinstein-Taybi Syndrome | NGS of CREBBP gene | 28 days | LV4049 | +Info |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) | NGS of NOTCH3 gene | 28 days | LV3973 | +Info |
| Treacher Collins syndrome | NGS of TCOF1 gene | 35 days | LV3204 | +Info |
| Cohen Syndrome | NGS of the VPS13B (COH1) gene | 42 days | LV1552 | +Info |
| Epilepsy, idiopathic generalized and Epilepsy, juvenile myoclonic, | NGS of 10 gene panel: CACNB4, CLCN2, CHRNA7, CNTN2, GABRA1, GABRD, GABRB3, GABRG2, SLC2A1, TBC1D24, | 42 days | LV3405 | +Info |
| Epilepsy, frontal or temporal lobes | NGS of 10 gene panel: CHRNA2, CHRNA4, CHRNB2, DEPDC5, GABBR1, GABBR2, KCNT1, LGI1, TNK2, SLC12A2 | 42 days | LV3414 | +Info |
| Epilepsy: genes in investigation | NGS of 12 gene panel: ADAM22, GABRB1, GABRB2, GABRA6, GABRE, GABRG1, GABRP, GABRQ, GABRR1, GABRR2, GABRR3, VDAC1 | 42 days | LV3424 | +Info |
| Epilepsy, progressive myoclonic, Lafora and Unverricht and Lundborg types | NGS of 12 gene panel: ASAH1, CERS1, CSTB, EPM2A, EPM2AIP1, GOSR2, KCNC1, KCTD7, NHLRC1, PRICKLE1, PRICKLE2, SCARB2. | 42 days | LV3404 | +Info |
| Epilepsy related with Ceroid lipofuscinosis, neuronal | NGS of 12 gene panel: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, MFSD8, PPT1, TPP1. | 42 days | LV3412 | +Info |
| Epilepsy related with metabolic disorders | NGS of 13 gene panel: ADSL, ARG1, ALDH5A1, BCKDHB, BTD, D2HGDH, FARS2, GAD2, GLB1, GLUL, PGK1, PSAT1, SUOX. | 42 days | LV3411 | +Info |
| Cortical dysplasia an other CNS malformations | NGS of 13 gene panel: ATP7A, ARFGEF2, CNTNAP2,DEPDC5, ERMARD, FLNA, KIF2A, KIF5C, STAMBP, TUBB, TUBB2A, TUBB3, TUBG1 | 42 days | LV3415 | +Info |
| Aicardi-Goutieres 1, Alpers, Bartter, Griscelli, Kohlschutter-Tonz, Martsolf, Menkes, Neu-Laxova, Pitt-Hopkins, SANDO, Sesame, Warburg micro syndromes | NGS of 15 gene panel: ATP7A, CNTNAP2, KCNJ1, KCNJ10, MYO5A, NRXN1, POLG, PSAT1, RAB27A, RAB3GAP1, RAB3GAP2, ROGDI, SLC12A1, TCF4, TREX1. | 42 days | LV3419 | +Info |
| Epilepsy: genes associated to diagnosis and treatment | NGS of 200 gene panel: ABAT, ADAM22, ADSL, ALDH5A1, ALDH7A1, ALG13, AMT, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARX, ASAH1, ATP13A2, ATP7A, BCKDHB, BRAT1, BTD, CACNA1A, CACNA2D2, CACNB4, CASK, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTN2, CNTNAP2, ,CSNK1G1 , CSTB, CTSD, CTSF, D2HGDH, DEPDC5, DNAJC5, DNM1, DOCK7, DYNC1H1, EEF1A2, EPM2A, EPM2AIP1, ERMARD, FARS2, FLNA, FOLR1, FOXG1, FUCA1, GABBR1, GABBR2, GABRA1, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ, GABRR1, GABRR2, GABRR3, GAD2, GAMT, GATM, GCSH, GLB1, GLDC, GLRA1, GLRB, GLUL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HCN2, HCN3, HCN4, HNRNPU, KCNA2, KCNAB1, KCNB1, KCNC1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, KIF2A, KIF5C, KPNA7, LGI1, MAGI2, MAPK10, MBD5, MECP2, MED17, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, MYO5A, NECAP1, NEDD4L, NEU1, NHLRC1, NRXN1, PCDH19, PGK1, PIGA, PIGN, PIGQ, PIGT, PLCB1, PMM2, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSAT1, PURA, RAB27A, RAB3GAP1, RAB3GAP2, RBFOX1, RBFOX3, RFT1, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCN8A, SCN9A, SERPINI1, SLC12A1, SLC12A2, SLC12A7, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC4A10, SLC6A5, SLC6A8, SNIP1, SPTAN1, SRGAP2, SRPX2, ST3GAL3, ST3GAL5, STAMBP, STXBP1, SUOX, SYN1, SYNGAP1, SZT2, TBC1D24, TCF4, TNK2, TPP1, TREX1, TUBB, TUBB2A, TUBB3, TUBG1, UBE3A, VDAC1, WWOX, EPHX1, CYP2C19, CYP2C9, CYP2D6 | 56 days | LV3425 | +Info |
| Epilepsy associated to intellectual disabilities | NGS of 29 gene panel: ABAT, CASK, CDKL5, DYNC1H1, FOXG1, GABRA5, GABRG3, GRIN1, GRIN2A, GRIN2B,MBD5, MECP2, MED17, MEF2C, MTOR, NEU1, PIGN, PIGT, PURA, RBFOX1, RBFOX3, SLC4A10, SNIP1, SRGAP2, SRPX2, ST3GAL5, SYN1, SYNGAP1, UBE3A. | 42 days | LV3418 | +Info |
| Cerebral folate transport deficiency | NGS of 2 gene panel: FOLR1, FUCA1 | 42 days | LV3420 | +Info |
| Glycine encephalopathy | NGS of 3 gene panel: AMT, GCSH, GLDC | 42 days | LV3408 | +Info |
| Cerebral creatine deficiency | NGS of 3 gene panel: GAMT, GATM, SLC6A8 | 42 days | LV3409 | +Info |
| Hyperekplexia, hereditary | NGS of 3 gene panel: GLRA1, GLRB, SLC6A5 | 42 days | LV3421 | +Info |
| Molybdenum cofactor deficiency | NGS of 3 gene panel: GPHN, MOCS1, MOCS2 | 42 days | LV3410 | +Info |
| Channelopathies associated with epilepsy | NGS of 41 gene panel: CACNA1A, CACNA2D2, CACNB4, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, GABRA1, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GABRG3, HCN1, HCN2, HCN3, HCN4, KCNA2, KCNAB1, KCNB1, KCNC1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCN8A, SCN9A. | 42 days | LV3422 | +Info |
| Epileptic encephalopathy, early infantile | NGS of 49 gene panel: ALDH7A1, ARHGEF9, ARHGEF15, ARX, BRAT1, CACNA2D2, CDKL5, CHD2, CLCN4, CSNK1G1, DNM1, DOCK7, EEF1A2, GABRA1, GNAO1, GRIN2B, HCN1, HNRNPU, KCNA2, KCNB1, KCNH5, KCNQ2, KCNT1, KPNA7, MAPK10, MECP2, NECAP1, NEDD4L, PCDH19, PIGA, PIGQ, PLCB1, PNKP, PNPO, SCN1A, SCN2A, SCN8A, SCN9A, SERPINI1, SLC13A5,SLC2A1, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SZT2, TBC1D24, WWOX. | 42 days | LV3403 | +Info |
| Congenital disorder of glycosylation with epilepsy | NGS of 4 gene panel: LG13, PMM2, RFT1, SLC35A2 | 42 days | LV3407 | +Info |
| Seizures, benign familial neonatal and infantile | NGS of 4 gene panel: KCNQ2, KCNQ3, SCN2A, PRRT2 | 42 days | LV3413 | +Info |
| Hereditary hyperekplexia | NGS of 5 gene panel: ARHGEF9, GLRA1, GLRB, GPHN,SLC6A5 | 42 days | LV3426 | +Info |
| Epilepsy, generalized, with febrile seizures plus and Febrile seizures, familial, | NGS of 6 gene panel: GABRD, GABRG2, HCN2, SCN1A, SCN1B, SCN9A | 42 days | LV3406 | +Info |
| Epilepsy and paroxysmal dyskinesia | NGS of 6 gene panel: GNAO1,KCNMA1, MAGI2,PRRT2, SCN8A, SLC2A1 | 42 days | LV3417 | +Info |
| T- B- Severe combined immunodeficiency | NGS of 6 gene panel: RAG1,RAG2,DCLRE1C,PRKDC,AK2,ADA | 42 days | LV3680 | +Info |
| Epilepsy associated to Rett, Angelman syndromes | NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRG3, MECP2, RBFOX1, RBFOX3, UBE3A. | 42 days | LV3416 | +Info |
| T- B+ Severe combined immunodeficiency | NGS of 8 gene panel: IL2RG,JAK3,L7RA,PTPRC,CD3D,CD3E,CD3Z,CORO1A | 42 days | LV3679 | +Info |
| Omenn Syndrome | NGS of 9 gene panel: RAG1,RAG2,DCLRE1C,IL7RA,RMRP,ADA,LIG4,IL2RG,AK2 | 42 days | LV3681 | +Info |
| Leopard syndrome | NGS of a 3-gene panel: BRAF, PTPN11, RAF1 | 42 days | LV3953 | +Info |
| Congenital Heart Diseases | NGS of a 51-gene panel: A2ML1, ACTC1, ACVR2B, BRAF, CBL, CFC1, CHD7, CITED2, CRELD1, EHMT1, EVC, FOXC1, FOXF1, G6PC3, GATA4, GATA6, GDF1, GJA1, HAND2, HRAS, JAG1, KRAS, LZTR1, MAP2K1, MAP2K2, MMP21, MYH6, NKX2-3, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NRAS, PTPN11, RAF1, RBM10, RIT1, RPSA, RRAS, SHOC2, SOS1, SOS2, TAB2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZFPM2, ZIC3 | 42 days | LV3955 | +Info |
| Prenatal Pathology | Prenatal exome trio | 28 days | LV3854 | +Info |
| Hypoaldosteronism, congenital, due to CMO II deficiency | Sanger secuencing of the CYP11B2 gene | 35 days | LV3287 | +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 |
| Aniridia | Sanger Sequencing and MLPA of the PAX6 gene | 56 days | LV0570 | +Info |
| Shwachman-Diamond syndrome | Sanger sequencing of cDNA correspondingto mRNA from the SDBS gene. | 42 days | LV0344 | +Info |
| Hypochondroplasia | Sanger Sequencing of exons 11 and13 of the FGFR3 gene | 28 days | LV0049 | +Info |
| Pfeiffer Syndrome | Sanger Sequencing of FGFR2 gene | 42 days | LV0911 | +Info |
| Holt Oram syndrome | Sanger sequencing of gen TBX5 gene | 35 days | LV0761 | +Info |
| Campomelic Dysplasia | Sanger sequencing of SOX9 gene | 42 days | LV0773 | +Info |
| Ichthyosis lamellar (Collodion baby) | Sanger sequencing of TGM1 gene | 70 days | LV0701 | +Info |
| Rett syndrome | Sanger Sequencing of the NTNG1 gene | 28 days | LV3230 | +Info |
| Interstitial Lung Disease due to ABCA3 Deficiency | Sanger Sequencing of the ABCA3 gene | Consult | LV2425 | +Info |
| Adrenoleukodystrophy | Sanger Sequencing of the ABCD1 gene | 42 days | LV1342 | +Info |
| Spondyloenchondrodysplasia with immune dysregulation | Sanger Sequencing of the ACP5 gene | Consult | LV2969 | +Info |
| Congenital Fiber-Type Disproportion | Sanger Sequencing of the ACTA1 gene | Consult | LV1220 | +Info |
| Polymicrogiria | Sanger Sequencing of the ADGRG1 gene | 35 days | LV2628 | +Info |
| Adenylosuccinase deficiency | Sanger sequencing of the ADSL gene | 42 days | LV3533 | +Info |
| Joubert Syndrome | Sanger Sequencing of the AHI1 gene | 126 days | LV1120 | +Info |
| Congenital disorder of glycosylation, type Ip | Sanger Sequencing of the ALG11 gene | Consult | LV2966 | +Info |
| Alstrom syndrome | Sanger Sequencing of the ALMS1 gene | 84 days | LV2331 | +Info |
| Ichthyosis lamellar (Collodion baby) | Sanger sequencing of the ALOX12B gene | 35 days | LV1379 | +Info |
| Ichthyosis lamellar (Collodion baby) | Sanger sequencing of the ALOXE3 gene | Consult | LV1380 | +Info |
| Glycine encephalopathy | Sanger Sequencing of the AMT gene | 28 days | LV2323 | +Info |
| Primary Congenital Glaucoma | Sanger sequencing of the ANGPT1 gene | 56 days | LV4327 | +Info |
| Craniometaphyseal dysplasia | Sanger Sequencing of the ANKH gene | 35 days | LV0966 | +Info |
| Hypogonadotropic hypogonadism 1 with or without anosmia | Sanger Sequencing of the ANOS1 gene | 49 days | LV2330 | +Info |
| Diabetes insipidus, nephrogenic autosomal recessive | Sanger Sequencing of the AQP2 gene | 28 days | LV3095 | +Info |
| Epileptic encephalopathy, early infantile, 1 | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Hydranencephaly with abnormal genitalia | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Lissencephaly, X-Linked | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Mental retardation, X-linked | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Proud syndrome | Sanger Sequencing of the ARX gene | 28 days | LV0902 | +Info |
| Bohring Opitz syndrome | Sanger Sequencing of the ASXL1 gene | 46 days | LV2916 | +Info |
| Peters-plus syndrome | Sanger Sequencing of the B3GLCT gene | 42 days | LV2514 | +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 |
| Gracile Syndrome | Sanger Sequencing of the BCS1L gene | Consult | LV0906 | +Info |
| Bartter type 4A with neurosensorial hearing loss, Syndrome | Sanger Sequencing of the BSND gene | 28 days | LV0483 | +Info |
| Biotinidase deficiency | Sanger sequencing of the BTD gene | 32 days | LV2672 | +Info |
| Rett syndrome | Sanger Sequencing of the CDKL5 gene | 42 days | LV1195 | +Info |
| Beckwith-Wiedemann syndrome | Sanger Sequencing of the CDKN1C gene | 42 days | LV0457 | +Info |
| Multiple pterygium syndrome, lethal type and Escobar syndrome | Sanger Sequencing of the CHRNG gene | 35 days | LV2631 | +Info |
| Myotonia Congenita | Sanger sequencing of the CLCN1 gene | 53 days | LV0713 | +Info |
| Osteopetrosis autosomal dominant 2, OPTA2 | Sanger Sequencing of the CLCN7 gene | 42 days | LV0533 | +Info |
| Bartter type 4B, Syndrome | Sanger Sequencing of the CLCNKA and CLCNKB gene | 126 days | LV0828 | +Info |
| Bartter syndrome type 3 | Sanger Sequencing of the CLCNKB gene | 49 days | LV0831 | +Info |
| Multiple Epiphyseal Dysplasia | Sanger Sequencing of the COMP gene | 28 days | LV0446 | +Info |
| Pseudoachondroplasia | Sanger Sequencing of the COMP gene | 28 days | LV0446 | +Info |
| Crisponi Syndrome | Sanger Sequencing of the CRLF1 gene | 56 days | LV1298 | +Info |
| Aldosteronism, glucocorticoid-remediable | Sanger sequencing of the CYP11B1 gene | 35 days | LV3286 | +Info |
| Primary Congenital Glaucoma | Sanger Sequencing of the CYP1B1 gene | 28 days | LV1100 | +Info |
| Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Sanger sequencing of the CYP21A2 gene | 42 days | LV0764 | +Info |
| Smith-Lemli-Opitz Syndrome | Sanger Sequencing of the DHCR7 gene | 35 days | LV0781 | +Info |
| Miller Syndrome | Sanger sequencing of the DHODH gene | 28 days | LV3233 | +Info |
| Primary Ciliary Dyskinesia 1 | Sanger sequencing of the DNAI1 gene | 49 days | LV1104 | +Info |
| Vanishing White Matter Disease | Sanger Sequencing of the EIF2B1 gene | Consult | LV1200 | +Info |
| Vanishing White Matter Disease | Sanger Sequencing of the EIF2B2 gene | 35 days | LV2603 | +Info |
| Neutropenia, severe congenital , autosomal dominant type 1 | Sanger Sequencing of the ELANE gene | 42 days | LV0337 | +Info |
| Emery-Dreifuss muscular dystrophy 1, X-linked | Sanger Sequencing of the EMD gene | 28 days | LV1341 | +Info |
| Schizencephaly | Sanger Sequencing of the EMX2 gene | Consult | LV0976 | +Info |
| Hydrops fetalis, nonimmune, and/or atrial septal defect | Sanger sequencing of the EPHB4 gene | 42 days | LV3890 | +Info |
| Tyrosinemia tipo I | Sanger Sequencing of the FAH gene | 56 days | LV0905 | +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 |
| Thanatophoric Dysplasia | Sanger Sequencing of the FGFR3 gene | 42 days | LV0879 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the FOXC1 gene | 35 days | LV1697 | +Info |
| Rett syndrome | Sanger Sequencing of the FOXG1 gene | 35 days | LV1296 | +Info |
| Epilepsy, generalized, with febrile seizures plus, type 3 | Sanger Sequencing of the GABRG2 gene | Consult | LV1587 | +Info |
| Mucopolysaccharidosis Type IVA | Sanger Sequencing of the GALNS gene | 56 days | LV1343 | +Info |
| Gaucher disease | Sanger Sequencing of the GBA gene | 46 days | LV2300 | +Info |
| Glycogen storage disease type IV | Sanger Sequencing of the GBE1 gene | Consult | LV0926 | +Info |
| Glutaric Aciduria type 1 | Sanger Sequencing of the GCDH gene | 42 days | LV0487 | +Info |
| Alexander disease | Sanger sequencing of the GFAP gene | 35 days | LV1101 | +Info |
| Hypoplastic left heart syndrome | Sanger Sequencing of the GJA1 gene | 35 days | LV0545 | +Info |
| Glycine encephalopathy | Sanger Sequencing of the GLDC gene | 60 days | LV2289 | +Info |
| Sialuria | Sanger sequencing of the GNE gene | 56 days | LV3493 | +Info |
| Simpson-Golabi-Behmel Syndrome | Sanger sequencing of the GPC3 gene | 53 days | LV3652 | +Info |
| Polyglucosan body myopathy 2 | Sanger sequencing of the GYG1 gene | 84 days | LV3280 | +Info |
| Hyperinsulinemic hypoglycemia, familial, 4 | Sanger sequencing of the HADH gene | 42 days | LV3171 | +Info |
| Septooptic Dysplasia | Sanger Sequencing of the HESX1 gene | 42 days | LV1139 | +Info |
| Tyrosinemia, type III | Sanger Sequencing of the HPD gene | Consult | LV2962 | +Info |
| Lesch-Nyhan syndrome | Sanger Sequencing of the HPRT1 gene | 49 days | LV2299 | +Info |
| Acrocapitofemoral dysplasia | Sanger sequencing of the IHH gene | 49 days | LV3474 | +Info |
| Brachydactyly, type A1 | Sanger sequencing of the IHH gene | 49 days | LV3474 | +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 |
| Andresen-Tawil Syndrome | Sanger sequencing of the KCNJ2 gene | 28 days | LV3241 | +Info |
| Epilepsy, Benign Familial Neonatal, 1 | Sanger Sequencing of the KCNQ2 gene | 49 days | LV2529 | +Info |
| Epilepsy, Benign Familial Neonatal, 2 | Sanger Sequencing of the KCNQ3 gene | Consult | LV0858 | +Info |
| Noonan 1 syndrome | Sanger Sequencing of the KRAS gene | Consult | LV0731 | +Info |
| Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| L1 syndrome | Sanger Sequencing of the L1CAM gene | 53 days | LV0903 | +Info |
| Vohwinkel syndrome with ichthyosis | Sanger sequencing of the LOR gene. | Consult | LV2668 | +Info |
| Primary Microcephaly, autosomal recessive | Sanger sequencing of the MCPH1 gene | 70 days | LV0566 | +Info |
| Rett syndrome | Sanger Sequencing of the MECP2 gene | 28 days | LV0343 | +Info |
| Bardet-Biedl type 6, Syndrome | Sanger Sequencing of the MKKS gene | 35 days | LV0912 | +Info |
| Methylmalonic aciduria and homocystinuria, cblC type | Sanger Sequencing of the MMACHC gene | Consult | LV2967 | +Info |
| Methylmalonic Acidemia | Sanger Sequencing of the MUT gene | 35 days | LV0970 | +Info |
| Diarrhea 4, malabsorptive, congenital | Sanger sequencing of the NEUROG3 gene | 84 days | LV3281 | +Info |
| Nance-Horan syndrome | Sanger Sequencing of the NHS gene | 35 days | LV2469 | +Info |
| Ichthyosis lamellar (Collodion baby) | Sanger sequencing of the NIPAL4 gene | Consult | LV1381 | +Info |
| Cornelia de Lange Syndrome | Sanger Sequencing of the NIPBL gene | 63 days | LV0881 | +Info |
| CINCA syndrome | Sanger Sequencing of the NLRP3 gene | 49 days | LV2313 | +Info |
| Nephrotic syndrome, type 1 | Sanger Sequencing of the NPHS1 gene | 42 days | LV0939 | +Info |
| Sotos Syndrome | Sanger Sequencing of the NSD1 gene | 42 days | LV0841 | +Info |
| Albinism, Oculo-cutaneous type II | Sanger Sequencing of the OCA2 gene | 42 days | LV0537 | +Info |
| Microphthalmia, syndromic 5 | Sanger Sequencing of the OTX2 gene. | 42 days | LV2516 | +Info |
| Succinyl CoA:3-oxoacid CoA transferase deficiency | Sanger sequencing of the OXCT1 gene | 46 days | LV3621 | +Info |
| Phenylketonuria | Sanger Sequencing of the PAH gene | 42 days | LV0208 | +Info |
| Waardenburg syndrome, type 1 | Sanger Sequencing of the PAX3 gene | 42 days | LV3091 | +Info |
| Waardenburg syndrome, type 3 | Sanger Sequencing of the PAX3 gene | 42 days | LV3091 | +Info |
| Peters Anomaly | Sanger Sequencing of the PAX6 gene | 56 days | LV0572 | +Info |
| Epileptic encephalopathy, early infantile, 9; Juberg-Hellman syndrome | Sanger Sequencing of the PCDH19 gene | 28 days | LV2971 | +Info |
| Central Hypoventilation Syndrome, Congenital | Sanger sequencing of the PHOX2B gene | 42 days | LV3671 | +Info |
| Brachydactyly with Joint dysplasia (Liebenberg syndrome) | Sanger Sequencing of the PITX1 gene | Consult | LV2277 | +Info |
| Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly | Sanger Sequencing of the PITX1 gene | Consult | LV2277 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the PITX2 gene | 35 days | LV2312 | +Info |
| Congenital disorder of glycosylation, type Ia | Sanger Sequencing of the PMM2 gene | Consult | LV1283 | +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 |
| Seizures, benign familial infantile, 3 | Sanger Sequencing of the PRRT2 gene | 35 days | LV2173 | +Info |
| Hereditary pancreatitis | Sanger sequencing of the PRSS1 gene | 33 days | LV3668 | +Info |
| Failure of tooth eruption, primary | Sanger Sequencing of the PTH1R gene | 42 days | LV2575 | +Info |
| Noonan 1 syndrome | Sanger Sequencing of the PTPN11 gene | 42 days | LV0257 | +Info |
| Noonan 1 syndrome | Sanger sequencing of the RAF1 gene | 56 days | LV0575 | +Info |
| Smiht-Magenis Syndrome | Sanger Sequencing of the RAI1 gene | Consult | LV0936 | +Info |
| Fetal akinesia deformation sequence | Sanger Sequencing of the RAPSN gene | 56 days | LV1554 | +Info |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Aicardi-Goutieres syndrome 4 | Sanger Sequencing of the RNASEH2A gene | Consult | LV2913 | +Info |
| Aicardi-Goutieres syndrome 2 | Sanger Sequencing of the RNASEH2B gene | 49 days | LV2311 | +Info |
| Aicardi-Goutieres syndrome 3 | Sanger Sequencing of the RNASEH2C gene | 28 days | LV2310 | +Info |
| Brachydactyly, TYPE B1 | Sanger sequencing of the ROR2 gene | 46 days | LV0784 | +Info |
| Coffin-Lowry syndrome | Sanger Sequencing of the RPS6KA3 gene | 42 days | LV0335 | +Info |
| Cleidocranial Dysplasia | Sanger Sequencing of the RUNX2 gene | 42 days | LV0513 | +Info |
| Townes-Brocks Syndrome | Sanger sequencing of the SALL1 gene | 42 days | LV0808 | +Info |
| Amyotrophy, hereditary neuralgic | Sanger Sequencing of the SEPT9 gene | 42 days | LV2171 | +Info |
| Interstitial Lung Disease due to surfactant protein C deficiency | Sanger Sequencing of the SFTPC gene | 28 days | LV2427 | +Info |
| Schizencephaly | Sanger Sequencing of the SHH and SIX3 genes | 35 days | LV1284 | +Info |
| Holoprosencephaly | Sanger Sequencing of the SHH gene | 70 days | LV1208 | +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 |
| Shprintzen-Goldberg syndrome | Sanger Sequencing of the SKI gene | 35 days | LV2308 | +Info |
| Gitelman Syndrome | Sanger Sequencing of the SLC12A3 gene | 63 days | LV0823 | +Info |
| Glycogen Storage Disease Type 1 B | Sanger Sequencing of the SLC37A4 gene | 28 days | LV1160 | +Info |
| Hyperekplexia 3 | Sanger sequencing of the SLC6A5 gene | 84 days | LV3279 | +Info |
| Glycine encephalopathy with normal serum glycine | Sanger sequencing of the SLC6A9 gene | 32 days | LV3751 | +Info |
| Cornelia de Lange syndrome 2 | Sanger Sequencing of the SMC1A gene | 49 days | LV2404 | +Info |
| Optic nerve hypoplasia and abnormalities of the central nervous system | Sanger Sequencing of the SOX2 gene | 28 days | LV3175 | +Info |
| Panhypopituitarism, X-linked | Sanger Sequencing of the SOX3 gene | 35 days | LV2316 | +Info |
| Legius syndrome | Sanger Sequencing of the SPRED1 gene | 35 days | LV2471 | +Info |
| Gonadal Dysgenesis (XY Female) | Sanger Sequencing of the SRY gene | 28 days | LV0268 | +Info |
| Hyper-IgE, syndrome | Sanger sequencing of the STAT3 gene | 42 days | LV2661 | +Info |
| Epileptic encephalopathy, early infantile, 16 | Sanger sequencing of the TBC1D24 gene | 28 days | LV3234 | +Info |
| 22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) | Sanger Sequencing of the TBX1 gene | 35 days | LV2912 | +Info |
| Pitt-Hopkins syndrome | Sanger Sequencing of the TCF4 gene | 49 days | LV2965 | +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 |
| Ectrodactyly, Ectodermal Dysplasia and Cleft lip/Palate Syndrome | Sanger Sequencing of the TP63 gene (TP73L) | 49 days | LV0317 | +Info |
| Arthrogryposis Multiplex Congenita Distal Type 1 | Sanger Sequencing of the TPM2 gene | Consult | LV1257 | +Info |
| Congenital Fiber-Type Disproportion | Sanger Sequencing of the TPM3 gene | 28 days | LV2614 | +Info |
| Aicardi-Goutieres syndrome 1, dominant and recessive | Sanger Sequencing of the TREX1 gene | 28 days | LV2309 | +Info |
| Trichorhinophalangeal syndrome, type I | Sanger Sequencing of the TRPS1 gene | 84 days | LV1683 | +Info |
| Digital arthropathy-brachydactyly, familial | Sanger Sequencing of the TRPV4 gene | 35 days | LV2072 | +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 |
| Polymicrogiria | Sanger Sequencing of the TUBA8 gene | Consult | LV0901 | +Info |
| Polymicrogiria | Sanger Sequencing of the TUBB2B gene | 42 days | LV0900 | +Info |
| Craniosynostosis | Sanger Sequencing of the TWIST1 gene | 42 days | LV0734 | +Info |
| Saethre-Chotzen syndrome | Sanger Sequencing of the TWIST1 gene | 42 days | LV0734 | +Info |
| Ablepharon-macrostomia syndrome | Sanger sequencing of the TWIST2 gene | 28 days | LV3218 | +Info |
| Crigler-Najjar Syndrome, Type II | Sanger Sequencing of the UGT1A1 gene | 42 days | LV0472 | +Info |
| Crigler-Najjar syndrome | Sanger Sequencing of the UGT1A1 gene | 42 days | LV0472 | +Info |
| Cerebellar hypoplasia and mental retardation with or without quadruped | Sanger Sequencing of the VLDLR gene | 35 days | LV2598 | +Info |
| Osteogenesis imperfecta, type XV | Sanger sequencing of the WNT1 gene | 84 days | LV3278 | +Info |
| Epileptic encephalopathy, early infantile, 1 | Sanger sequencing of the WWOX gene | 35 days | LV3734 | +Info |
| Wieacker-Wolff syndrome | Sanger Sequencing of the ZC4H2 gene | Consult | LV3093 | +Info |
| Simpson-Golabi-Behmel Syndrome | Sanger Sequencing, and detection of deletions and duplications in the GPC3 gene by MLPA | 49 days | LV0782 | +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 |
| Acromesomelic dysplasia, Maroteaux type | Sequencing of the NPR2 gene | 42 days | LV1983 | +Info |
| Common test of all diseases | Study of prenatal maternal contamination | Consult | LV1140 | +Info |
| Spinal muscular atrophy | Study of the copy number in SMN1 and detection of the high risk haplotype for silent carriers by MLPA (ethnicity required) | 28 days | LV4137 | +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 |
| Uniparental Disomy, chromosome 14 | Uniparental Disomy detection of chromosome 14 | 28 days | LV0729 | +Info |
| Prader-Willi syndrome | Uniparental disomy detection of chromosome 15 | 28 days | LV0243 | +Info |
| Russell-Silver, Syndrome | Uniparental disomy detection of chromosome 7 | 28 days | LV0536 | +Info |
