Malignant Melanoma | BRAF exon 15 screening of frequent mutations by Digital Droplet PCR | 7 days | LV4290 | +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 |
Incontinentia Pigmenti | Detection of deletion in the IKBKG gene | 28 days | LV0221 | +Info |
Menkes disease | Detection of deletions and duplications in the ATP7A gene by MLPA | 28 days | LV2298 | +Info |
Albinism, Oculo-cutaneous type II | Detection of deletions and duplications in the OCA2 gene by MLPA | 28 days | LV2301 | +Info |
Tumor predisposition syndrome | Detection of deletions and/or duplications in BAP1 gene by MLPA | 28 days | LV3080 | +Info |
Hypercholesterolemia, familial | Detection of deletions and/or duplications in LDLR gene by MLPA | 28 days | LV2464 | +Info |
Melanoma and neural system tumor syndrome | Detection of deletions and/or duplicationsin CDKN2A gene by MLPA | 28 days | LV3081 | +Info |
Capillary and Arteriovenous Malformations | Detection of large delections orduplications in RASA1 gene by MLPA | 28 days | LV3612 | +Info |
Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) | Detection of large deletions / duplications in the ENG and ACVRL1 genes by MLPA | 28 days | LV3212 | +Info |
Pseudoxanthoma Elasticum | Detection of large deletions and/or duplications ABCC6 gene by MLPA | 28 days | LV1146 | +Info |
Alpha-Galactosidase A Deficiency (Fabry disease) | Detection of large deletions and/or duplications in GLA gene by MLPA | 28 days | LV1181 | +Info |
Legius syndrome | Detection of large deletions and/or duplications in SPRED1 gene by MLPA | 28 days | LV1580 | +Info |
Telangiectasia ataxia | Detection of large deletions and/or duplications in the ATM gene by MLPA | 28 days | LV1463 | +Info |
Ocular Albinism type 1 | Detection of large deletions and/or duplications in the GPR143 gene by MLPA | 28 days | LV2275 | +Info |
Gorlin, syndrome | Detection of large deletions and/or duplications in the PTCH1 gene by MLPA | 28 days | LV2175 | +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 |
Telangiectasia ataxia | geneNGS and Sanger sequencing of theATM | 42 days | LV1015 | +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 |
Trichorhinophalangeal syndrome, type I | Large deletion and duplication detection in theEXT1 and TRSP1 genes by MLPA | 35 days | LV3609 | +Info |
Epidermolysis Bullosa Dystrophica AD | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +Info |
Transient Bullous Dermolysis of the Newborn | Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene | 42 days | LV1211 | +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 |
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 |
Neurofibromatosis, type 1 | NGS and bioinformatic CNVs screening, 2-gene panel: NF1, NF2 | 35 days | LV4360 | +Info |
Melanoma and Tumor predisposition syndrome | NGS and bioinformatic CNVs screening, 8-gene panel: BAP1, CDK4, CDKN2A, MC1R, MITF, POT1, TERT, XRCC3 | 42 days | LV4357 | +Info |
Capillary and Arteriovenous Malformations | NGS AND Sanger sequencing of the RASA1 gene | 42 days | LV3110 | +Info |
Pseudoxanthoma Elasticum | NGS and Sanger sequencing of the ABCC6 gene | 42 days | LV3165 | +Info |
Hypercholesterolemia, familial | NGS and Sanger sequencing of the APOB gene | 28 days | LV3429 | +Info |
Menkes disease | NGS and Sanger Sequencing of the ATP7A gene | 42 days | LV1730 | +Info |
Rothmund-Thompson syndrome | NGS and Sanger Sequencing of the RECQL4 gene | 42 days | LV2022 | +Info |
Cutaneous telangiectasia and cancer syndrome, familial | NGS and Sanger Sequencing of theATRgene | 42 days | LV1733 | +Info |
Neurofibromatosis, type 1 | NGS and sequential detection of deletions and duplications by MLPA of the NF1 gene (gDNA) | 49 days | LV3971 | +Info |
Intellectual Disability in: Dyskeratosis congenita; Cerebrotendinous xanthomatosis; Ichthyosis, spastic quadriplegia, and mental retardation; IFAP syndrome with or without Bresheck syndrome; | NGS of 11 gene panel: ALDH18A1, CYP27A1, DKC1, ELOVL4, FGFR2, MBTPS2, NSDHL, PIGL, PORCN, PYCR1, VCX3A | 42 days | LV3020 | +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 |
Albinism related syndromic and non-syndromic. | NGS of 7 gene panel: TYR, OCA2, TY$P1, SLC45A2, SLC24A5, C10orf11, GPR143 | Consult | LV3183 | +Info |
Hypercholesterolemia, familial | NGS of 8 gene panel: ABCG5, ABCG8, APOB,APOE, CYP7A1, LDLR, LDLRAP1, PCSK9. | 42 days | LV3368 | +Info |
Hypercholesterolemia, familial | NGS of a 3-gene panel: APOB, LDLR and PCSK9 | 42 days | LV3931 | +Info |
Neurofibromatosis, type 1 | NGS of NF1 gene | 28 days | LV4044 | +Info |
Epidermodysplasia verruciformis | NGS of 2 gene panel: EVER1,EVER2 | 42 days | LV3707 | +Info |
Basal cell nevus syndrome, Gorlin syndrome | NGS of 2 gene panel: PTCH1, SUFU | 42 days | LV3645 | +Info |
Wiskott-Aldrich Syndromes 1 and 2 | NGS of 2 gene panel: WAS,WIPF1 | 42 days | LV3682 | +Info |
Complement system congenital defects. C1INH, CR2, CR3 deficiency | NGS of 3 gene panel: SERPING1,CD21,ITGB2 | 42 days | LV3712 | +Info |
Dyskeratosis congenita | NGS of 9 gene panel: ACD, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2 | 42 days | LV3631 | +Info |
Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Seq.of the GLA gene & Detection of large deletions and/or duplications in the GLA gene by MLPA | 42 days | LV1495 | +Info |
Sjogren-Larsson, Syndrome | Sanger Sequencing of ALDH3A2 gene | 46 days | LV2280 | +Info |
Brooke-Spiegler syndrome | Sanger Sequencing of CYLD gene | 42 days | LV2279 | +Info |
Pachyonychia congenita, Jackson-Lawler type | Sanger Sequencing of KRT17 gene | 49 days | LV2371 | +Info |
Monilethrix | Sanger Sequencing of KRT81 and KRT86 genes | 49 days | LV3752 | +Info |
Ichthyosis lamellar (Collodion baby) | Sanger sequencing of TGM1 gene | 70 days | LV0701 | +Info |
Chanarin-Dorfman syndrome | Sanger sequencing of the ABHD5 gene | 35 days | LV4109 | +Info |
Spondyloenchondrodysplasia with immune dysregulation | Sanger Sequencing of the ACP5 gene | Consult | LV2969 | +Info |
Telangiectasia, hereditary hemorrhagic, type 2 | Sanger Sequencing of the ACVRL1 gene | 42 days | LV0824 | +Info |
Polyarteritis Nodosa, childhood-onset (PAN) | Sanger sequencing of the ADA2 (CECR1) gene | 42 days | LV3792 | +Info |
Proteus syndrome, somatic | Sanger Sequencing of the AKT1 gene | 42 days | LV2525 | +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 |
Hailey-Hailey disease | Sanger sequencing of the ATP2C1 gene | 56 days | LV3663 | +Info |
Tumor predisposition syndrome | Sanger Sequencing of the BAP1 gene | Consult | LV2964 | +Info |
Biotinidase deficiency | Sanger sequencing of the BTD gene | 32 days | LV2672 | +Info |
Melanoma, cutaneous malignant, susceptibility to, 3 | Sanger Sequencing of the CDK4 gene | 32 days | LV2315 | +Info |
Melanoma, familial | Sanger Sequencing of the CDKN2A (p16) gene | 42 days | LV0223 | +Info |
Neurofibromatosis, type 1 | Sanger sequencing of the cDNA corresponding to the NF1 gene mRNA and confirmation of variants in gDNA | 63 days | LV3972 | +Info |
Hypohidrotic Ectodermal Dysplasia | Sanger Sequencing of the EDA gene | 35 days | LV0927 | +Info |
Hypohidrotic Ectodermal Dysplasia | Sanger Sequencing of the EDAR gene | 35 days | LV0944 | +Info |
Hypohidrotic Ectodermal Dysplasia | Sanger Sequencing of the EDARADD gene | 35 days | LV0945 | +Info |
Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) | Sanger sequencing of the ENG gene | 42 days | LV0813 | +Info |
Poikiloderma congenital, Weary type | Sanger Sequencing of the FERMT1 gene | 42 days | LV2524 | +Info |
Birt-Hogg-Dube syndrome | Sanger Sequencing of the FLCN gene | 56 days | LV2566 | +Info |
Trimethylaminuria | Sanger Sequencing of the FMO3 gene | 35 days | LV2122 | +Info |
Gaucher disease | Sanger Sequencing of the GBA gene | 46 days | LV2300 | +Info |
Hidrotic Ectodermal Dysplasia | Sanger Sequencing of the GJB6 gene | 28 days | LV0496 | +Info |
Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Sequencing of the GLA gene | 42 days | LV1180 | +Info |
Ocular Albinism type 1 | Sanger sequencing of the GPR143 gene | 56 days | LV0554 | +Info |
Incontinentia Pigmenti | Sanger sequencing of the IKBKG gene | 56 days | LV1460 | +Info |
Epidermolytic palmoplantar hyperkeratosis | Sanger sequencing of the KRT1 | 35 days | LV1417 | +Info |
Simple Epidermolysis Bullosa | Sanger Sequencing of the KRT14 gene | Consult | LV1150 | +Info |
Simple Epidermolysis Bullosa | Sanger Sequencing of the KRT5 gene | 42 days | LV0490 | +Info |
Epidermolytic palmoplantar hyperkeratosis | Sanger sequencing of the KRT9 gene | 35 days | LV1416 | +Info |
Hypercholesterolemia, familial | Sanger Sequencing of the LDLR gene | 42 days | LV0219 | +Info |
Hypercholesterolemia, familial | Sanger Sequencing of the LDLRAP1 gene | Consult | LV2303 | +Info |
Vohwinkel syndrome with ichthyosis | Sanger sequencing of the LOR gene. | Consult | LV2668 | +Info |
Ichthyosis lamellar (Collodion baby) | Sanger sequencing of the NIPAL4 gene | Consult | LV1381 | +Info |
Albinism, Oculo-cutaneous type II | Sanger Sequencing of the OCA2 gene | 42 days | LV0537 | +Info |
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | Sanger Sequencing of the PSTPIP1 gene | Consult | LV1694 | +Info |
Gorlin, syndrome | Sanger Sequencing of the PTCH1 gene | 42 days | LV0336 | +Info |
Cartilage-Hair Hypoplasia | Sanger Sequencing of the RMRP gene | 53 days | LV1114 | +Info |
Episodic pain syndrome, familial, 2 | Sanger sequencing of the SCN10A gene | 90 days | LV3211 | +Info |
Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ | Sanger Sequencing of the SLC39A4 gene | 28 days | LV1550 | +Info |
Legius syndrome | Sanger Sequencing of the SPRED1 gene | 35 days | LV2471 | +Info |
Trichorhinophalangeal syndrome, type I | Sanger Sequencing of the TRPS1 gene | 84 days | LV1683 | +Info |
Albinism, Oculo-cutaneous type 1A | Sanger Sequencing of the TYR gene | 42 days | LV0166 | +Info |
Albinism, Oculo-cutáneous type 1B | Sanger Sequencing of the TYR gene | 42 days | LV0166 | +Info |
Xeroderma Pigmentosum | Sanger Sequencing of the XPA gene | Consult | LV0989 | +Info |
Xeroderma Pigmentosum | Sanger Sequencing of the XPC gene | 56 days | LV0988 | +Info |
Epidermolytic hyperkeratosis | Sanger sequenicng of the KRT10 and KRT1 genes | 42 days | LV1378 | +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 |
Neuropathy, Hereditary Sensory and Autonomic, type V | Sequencing of the NGF gene | Consult | LV2252 | +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 |