Dermatology archivos - Sistemas Genómicos

Disease	Modality	Delivery	Reference	Data sheet
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

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