Showing all 53 results

DiseaseModalityDeliveryReferenceData sheet
Lung CáncerALK rearrangement detection by FISH21 daysLV4342
Common test of all diseasesChromosome X inactivation analysis28 daysLV0222
Clinical Exome Sequencing for diagnosis.Clinical Exome trio with report of clinicallyrelevant findings56 daysLV3245
Clinical Exome Sequencing for diagnosis.Clinical Exome duo with report of clinicallyrelevant findings56 daysLV3246
Clinical Exome Sequencing for diagnosis.Clinical Exome reanalysisConsultLV4169
Clinical Exome Sequencing for diagnosis.Clinical Exome single with report of clinicallyrelevant findings56 daysLV3247
Lung CáncerDetection and quantification of p.L858R mutation in the EGFR gene by Digital Droplet PCR21 daysLV4204
Lung CáncerDetection and quantification of p.T790M mutation in the EGFR gene by Digital Droplet PCR7 daysLV4203
Tumor predisposition syndromeDetection of deletions and/or duplications in BAP1 gene by MLPA28 daysLV3080
Duane-radial ray syndromeDetection of deletions and/or duplications in SALL4 gene by MLPA28 daysLV3085
Cystic FibrosisDetection of deletions and/or duplications in theCFTR gene by MLPA.42 daysLV2663
Common test of all diseasesDetection of specific mutations28 daysLV0051
Clinical Exome Sequencing for diagnosis.Directed CLINICAL EXOME up to 200 genes with diagnostic report (capture of 58Mb)42 daysLV4152
Clinical Exome Sequencing for diagnosis.Directed KEY EXOME up to 200 genes with diagnostic report (capture of 17Mb)42 daysLV4150
Lung CáncerEGFR Mutation screening by digital droplet PCR7 daysLV4291
Muscular dystrophy, limb-girdle, type 2Cetection of large deletions and/or duplicationsIn SGCG gene by MLPA28 daysLV3285
Clinical Exome Sequencing for diagnosis.Extension of Directed CLINICAL EXOME to CLINICAL EXOME with diagnostic report (capture of 58Mb)42 daysLV4132
Clinical Exome Sequencing for diagnosis.Extension of Directed KEY EXOME to Clinical KEY EXOME with diagnostic report (capture of 17Mb)42 daysLV4135
Clinical Exome Sequencing for diagnosis.Extension of exome analysis to relevantvariants located in research genes.42 daysLV3607
Clinical Exome Sequencing for diagnosis.Focus clinical Exome of patient, mother and father without report.28 daysLV4125
Clinical Exome Sequencing for diagnosis.Focus clinical Exome of patient, mother or father without report.28 daysLV4124
Clinical Exome Sequencing for diagnosis.Focus clinical Exome of patient, without report.28 daysLV4123
Common test of all diseasesGenetic counseling consultationConsultLV0033
Alpha1-antitrypsin deficiencyGenotyping of the PI*Z and PI*S alleles of theSERPINA1 gene28 daysLV0720
Genetic Linkage AnalysisHaplotypes analysis (includes three familymembers and four genetic markers)ConsultLV0036
Clinical Exome Sequencing for diagnosis.Key Exome reanalysisConsultLV4170
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, PYCR142 daysLV2180
Cystic FibrosisNGS sequencing of the CFTR gene35 daysLV3427
Chorea, hereditary benignSanger secuencing of the NKX2-1 gene28 daysLV3240
Pulmonary Fibrosis IdiopathicSanger Seq. and detection of large deletionsor duplications in the TERT gene by MLPAConsultLV1089
Interstitial Lung Disease due to ABCA3 DeficiencySanger Sequencing of the ABCA3 geneConsultLV2425
Spondyloenchondrodysplasia with immune dysregulationSanger Sequencing of the ACP5 geneConsultLV2969
Geleophysic dysplasia 1Sanger Sequencing of the ADAMTSL2 geneConsultLV2896
Tumor predisposition syndromeSanger Sequencing of the BAP1 geneConsultLV2964
Pulmonary hypertension, familial primary, 1Sanger Sequencing of the BMPR2 gene42 daysLV0157
Pleuropulmonary blastoma family tumor susceptibility syndromeSanger sequencing of the DICER1 gene70 daysLV3388
Primary Ciliary Dyskinesia 1Sanger sequencing of the DNAI1 gene49 daysLV1104
Hydrops fetalis, nonimmune, and/or atrial septal defectSanger sequencing of the EPHB4 gene42 daysLV3890
Birt-Hogg-Dube syndromeSanger Sequencing of the FLCN gene56 daysLV2566
Diaphragmatic hernia 3Sanger Sequencing of the gene ZFPM2ConsultLV2440
Polyglucosan body myopathy 2Sanger sequencing of the GYG1 gene84 daysLV3280
Mucopolysaccharidosis ISanger Sequencing of the IDUA gene35 daysLV3108
MEGDEL syndrome (3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome)Sanger sequencing of the SERAC1 gene56 daysLV3387
Alpha1-antitrypsin deficiencySanger sequencing of the SERPINA1 gene32 daysLV0721
Surfactant metabolism dysfunctionSanger sequencing of the SFTPB gene35 daysLV4105
Interstitial Lung Disease due to surfactant protein C deficiencySanger Sequencing of the SFTPC gene28 daysLV2427
Hyperekplexia 3Sanger sequencing of the SLC6A5 gene84 daysLV3279
Epileptic encephalopathy, early infantile, 16Sanger sequencing of the TBC1D24 gene28 daysLV3234
Confirmation of the effect of Specific Mutation in mRNASequencing of a specific fragment of complementary DNA corresponding to messenger RNA by RT-PCR56 daysLV1682
Common test of all diseasesStudy of prenatal maternal contaminationConsultLV1140
Clinical Exome Sequencing for diagnosis.Targeted clinical exome (duo)56 daysLV3755
Clinical Exome Sequencing for diagnosis.Targeted clinical exome (trio)56 daysLV3756
Clinical Exome Sequencing for diagnosis.Targeted exome up to 200 genes56 daysLV3754