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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 |
| Duane-radial ray syndrome | Detection of deletions and/or duplications in SALL4 gene by MLPA | 28 days | LV3085 | +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 |
| Saethre-Chotzen syndrome | Detection of large deletions and/or duplications in the TWIST1 gene by MLPA | 28 days | LV2247 | +Info |
| Craniofacial-deafness-hand syndrome | Detection of large deletions and/or duplicationsin the PAX3 gene by MLPA | 28 days | LV3536 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed CLINICAL EXOME up to 200 genes with diagnostic report (capture of 58Mb) | 42 days | LV4152 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed KEY EXOME up to 200 genes with diagnostic report (capture of 17Mb) | 42 days | LV4150 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed CLINICAL EXOME to CLINICAL EXOME with diagnostic report (capture of 58Mb) | 42 days | LV4132 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed KEY EXOME to Clinical KEY EXOME with diagnostic report (capture of 17Mb) | 42 days | LV4135 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of exome analysis to relevantvariants located in research genes. | 42 days | LV3607 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother and father without report. | 28 days | LV4125 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother or father without report. | 28 days | LV4124 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, without report. | 28 days | LV4123 | +Info |
| Common test of all diseases | Genetic counseling consultation | Consult | LV0033 | +Info |
| Genetic Linkage Analysis | Haplotypes analysis (includes three familymembers and four genetic markers) | Consult | LV0036 | +Info |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Sjogren-Larsson, Syndrome | Sanger Sequencing of ALDH3A2 gene | 46 days | LV2280 | +Info |
| Spondyloenchondrodysplasia with immune dysregulation | Sanger Sequencing of the ACP5 gene | Consult | LV2969 | +Info |
| Fibrodysplasia Ossificans Progressiva | Sanger Sequencing of the ACVR1 gene | 42 days | LV0924 | +Info |
| Geleophysic dysplasia 1 | Sanger Sequencing of the ADAMTSL2 gene | Consult | LV2896 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Sanger sequencing of the AGXT gene | 53 days | LV3674 | +Info |
| Alstrom syndrome | Sanger Sequencing of the ALMS1 gene | 84 days | LV2331 | +Info |
| Myoadenylate deaminase deficiency | Sanger Sequencing of the AMPD1 gene | Consult | LV2895 | +Info |
| Bohring Opitz syndrome | Sanger Sequencing of the ASXL1 gene | 46 days | LV2916 | +Info |
| Diabetes insipidus, neurohypophyseal | Sanger Sequencing of the AVP gene | 35 days | LV2963 | +Info |
| Peters-plus syndrome | Sanger Sequencing of the B3GLCT gene | 42 days | LV2514 | +Info |
| Metaphyseal chondrodysplasia, Schmid type | Sanger sequencing of the COL10A1 gene | 47 days | LV2574 | +Info |
| Leukodystrophy, hypomyelinating, 5 | Sanger Sequencing of the FAM126A gene. | Consult | LV2928 | +Info |
| Mucopolysaccharidosis I | Sanger Sequencing of the IDUA gene | 35 days | LV3108 | +Info |
| Osteogenesis imperfecta, type V | Sanger Sequencing of the IFITM5 gene | Consult | LV3102 | +Info |
| Nail Patella syndrome | Sanger Sequencing of the LMX1B gene | 63 days | LV0341 | +Info |
| Craniofacial-deafness-hand syndrome | Sanger Sequencing of the PAX3 gene | 42 days | LV3091 | +Info |
| Borjeson-Forssman-Lehmann syndrome | Sanger Sequencing of the PHF6 gene | 35 days | LV2336 | +Info |
| Glycogen Storage Disease Type V | Sanger Sequencing of the PYGM gene | 46 days | LV0878 | +Info |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Shprintzen-Goldberg syndrome | Sanger Sequencing of the SKI gene | 35 days | LV2308 | +Info |
| Osteopetrosis, autosomal recessive 1 | Sanger Sequencing of the TCIRG1 gene | 49 days | LV2914 | +Info |
| Camurati-Engelmann disease | Sanger Sequencing of the TGFB1 gene | 42 days | LV3099 | +Info |
| Arthrogryposis multiplex congenital, distal, type 2B | Sanger sequencing of the TNNI3 gene | 28 days | LV1347 | +Info |
| Saethre-Chotzen syndrome | Sanger Sequencing of the TWIST1 gene | 42 days | LV0734 | +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 |