Gynecology and Human Reproduction

Showing all 98 results

DiseaseModalityDeliveryReferenceData sheet
Aneuploidy detection by QF-PCR (chromosomes 13,18, 21, X and Y) in Amniotic Fluid (AF)5 daysLV2145
Chickenpox PCR14 daysLV2152
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
Hypogonadotropic hypogonadism 1 with or without anosmiaDetection of deletions and/or duplications in ANOS1 gene by MLPA.28 daysLV2894
Cystic FibrosisDetection of deletions and/or duplications in theCFTR gene by MLPA.42 daysLV2663
Hereditary Breast and Ovarian CáncerDetection of deletions and/or duplicationsin TP53 gene by MLPA28 daysLV2974
Li Fraumeni SyndromeDetection of deletions and/or duplicationsin TP53 gene by MLPA28 daysLV2974
Y chromosome microdeletionsDetection of deletions in regions AZFa, AZFb, AZFc of the Y chromosome, associated to male infertility28 daysLV0224
Hereditary Breast and Ovarian CáncerDetection of large deletions and/or duplications in BRCA1 and BRCA2 genes by MLPA28 daysLV0187
Hereditary Breast and Ovarian CáncerDetection of large deletions and/or duplications in BRCA1 gene by MLPA28 daysLV1212
Hereditary Breast and Ovarian CáncerDetection of large deletions and/or duplications in BRCA2 gene by MLPA28 daysLV1213
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiencyDetection of large deletions and/or duplications in the CYP21A2 gene by MLPA28 daysLV1293
FISH (Fluorescence In Situ Hybridization) in prenatal samplesDetection of microdeletion syndromes21 daysLV1345
Factor V (Leiden) deficiencyDetection of mutation R506Q in the F5 (Factor V) gene28 daysLV0190
MTHFR deficiencyDetection of polymorphism A222Vin the MTHFR gene28 daysLV0052
Common test of all diseasesDetection of specific mutations28 daysLV0051
Hereditary Breast and Ovarian CáncerDetection of the c.156_157insAlu mutation in the BRCA2 gene28 daysLV4126
Congenital bilateral absence of vas deferensDetection of the poli-T polymorphism, associated with male infertility28 daysLV1276
Gonadal Dysgenesis (XY Female)Determination of the presence or absence of the SRY gene by PCR28 daysLV0226
XX Male syndromeDetermination of the presence or absence of the SRY gene by PCR28 daysLV0226
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
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
Plasminogen activator inhibitor-1 deficiencyGenotyping of the 4G/5G polymorphism in the 5'UTR region of the SERPINE1 gene28 daysLV0531
Genetic Linkage AnalysisHaplotypes analysis (includes three familymembers and four genetic markers)ConsultLV0036
FISH (Fluorescence In Situ Hybridization) in prenatal samplesIdentification of satellited supernumerary marker chromosomes21 daysLV3294
Karyotype in Amniotic fluid21 daysLV0043
Clinical Exome Sequencing for diagnosis.Key Exome reanalysisConsultLV4170
Hereditary Breast and Ovarian CáncerMAMMA GeneProfile: NGS and screening of deletions / duplications in the BRCA1 and BRCA2 genes. Sanger sequencing confirmation of pathological variants and MLPA confirmation of genomic rearrangements previously detected.28 daysLV1353
Fetal akinesia deformation sequence,Next Generation Sequencing of 2 gene panel: DOK7, RAPSN42 daysLV2183
Atelosteogenesis, type I, III, AD, Atelosteogenesis II AR, De la Chapelle dysplasia.Next Generation Sequencing of 2 gene panel: FLNB, SLC26A242 daysLV2200
Filamin group and related disorders: Frontometaphyseal dysplasia, Atelosteogenesis  1, 3,  FG 2, Melnick-Needles, Larsen,  Frank-ter Haar syndromes , Otopalatodigital  tNext Generation Sequencing of 3 gene panel: FLNA, FLNB, SH3PXD2B.42 daysLV2203
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 daysLV2212
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, SOX242 daysLV2189
Sulphation disorders group: Achondrogenesis 1B, Atelosteogenesis 2, Diastrophic dysplasia, Multiple Epiphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Larsen and Ehlers-Danlos musculo-coNext Generation Sequencing of 4 gene panel: CHST14, CHST3, PAPSS2, SLC26A242 daysLV2201
Asphyxiating thoracic dysplasia (ATD; Jeune) types 2, 3, 4, 5.Next Generation Sequencing of 4 gene panel: DYNC2H1, IFT80, TTC21B, WDR19.42 daysLV2206
Achondrogenesis, type II or hypochondrogenesis, Achondrogenesis IA, IB, Fibrochondrogenesis, autosomal recessive.Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, SLC26A2, TRIP11.42 daysLV2196
Severe spondylodysplastic dysplasias: Chondrodysplasia, lethal neonatal, with snail-like pelvis o  Schneckenbecken dysplasia, Achondrogenesis 1A , Achondrogenesis 2, PlatyspoNext Generation Sequencing of 6 gene panel: COL11A1, COL2A1, SLC26A2, SLC35D1, TRIP11, TRPV4.42 daysLV2211
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 daysLV2207
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 daysLV2205
Hereditary Breast and Ovarian CáncerNGS and bioinformatic CNVs screening, 22-gene panel: ATM, BARD1, BLM, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2, XRCC342 daysLV4353
Hereditary Breast and Ovarian CáncerNGS and bioinformatic CNVs screening, 24-gene panel: ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2, XRCC342 daysLV4339
Porencephaly 1NGS and Sanger Sequencing of the COL4A1 gene42 daysLV2408
Cystic FibrosisNGS sequencing of the CFTR gene35 daysLV3427
Screening in maternal bloodNon-invasive prenatal testing for fetal aneuploidies of chromosomes 13, 18, 21.BabyTest7 daysLV3470
Screening in maternal bloodNon-invasive prenatal testing for fetal aneuploidy (all chromosomes). BabyTest Plus7 daysLV2883
Screening in maternal bloodNon-invasive prenatal testing of fetal chromosomal aneuploidies and CNVs in maternal blood. SG BabyTest Advanced7 daysLV3779
Parvovirus.B19 PCR14 daysLV2153
Preconception Risk DetectionPreconception screening panel (CFTR -FRAXA)49 daysLV0441
QF-PCR detection of chromosome13, 18, 21, X and Y anomalies and maternal cell contamination5 daysLV3574
Screening in maternal bloodRhD detection in maternal blood3 daysLV2671
Rubella PCR14 daysLV2151
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiencySanger sequencing and detection of deletions/duplications by MLPA in the CYP21A2 gene42 daysLV4219
Interstitial Lung Disease due to ABCA3 DeficiencySanger Sequencing of the ABCA3 geneConsultLV2425
Hypogonadotropic hypogonadism 1 with or without anosmiaSanger Sequencing of the ANOS1 gene49 daysLV2330
Infertility associated to Spermatogenic failure 5Sanger Sequencing of the AURKC gene28 daysLV3161
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiencySanger sequencing of the CYP21A2 gene42 daysLV0764
Warsaw breakage syndromeSanger sequencing of the DDX11 gene60 daysLV3559
Hydrops fetalis, nonimmune, and/or atrial septal defectSanger sequencing of the EPHB4 gene42 daysLV3890
Hereditary leiomyomatosis and renal cell cancer syndromeSanger sequencing of the FH gene42 daysLV0775
Follicle-stimulating hormone deficiency, isolatedSanger Sequencing of the FSHB gene21 daysLV2274
Neural tube defectsSanger Sequencing of the FUZ gene42 daysLV3065
Hypogonadotropic hypogonadism 13 with or without anosmiaSanger sequencing of the KISS1 gene56 daysLV3400
Hypogonadotropic hypogonadism 8 with or without anosmiaSanger sequencing of the KISS1R gene56 daysLV3401
Precocious puberty central 2Sanger sequencing of the MKRN3 gene56 daysLV3402
Colorectal cancer, hereditary nonpolyposis, type 5Sanger sequencing of the MSH6 gene42 daysLV0707
Plasminogen Deficiency type 1Sanger Sequencing of the PLG geneConsultLV0783
ThrombophiliaSanger sequencing of the PROCR gene56 daysLV3899
Hereditary Breast and Ovarian CáncerSanger Sequencing of the RAD51C geneConsultLV1184
Ovarian CáncerSanger sequencing of the RAD51D geneConsultLV1414
Fetal akinesia deformation sequence Sanger Sequencing of the RAPSN gene56 daysLV1554
Noonan Syndrome 8Sanger sequencing of the RIT1 gene32 daysLV3560
Antithrombin III deficiencySanger sequencing of the SERPINC1 gene35 daysLV0726
Interstitial Lung Disease due to surfactant protein C deficiencySanger Sequencing of the SFTPC gene28 daysLV2427
Gonadal Dysgenesis (XY Female)Sanger Sequencing of the SRY gene28 daysLV0268
Li Fraumeni SyndromeSanger sequencing of the TP53 gene35 daysLV0706
Neural tube defectsSanger Sequencing of the VANGL1 gene42 daysLV3066
Neural tube defectsSanger Sequencing of the VANGL2 gene42 daysLV3067
FISH (Fluorescence In Situ Hybridization) in prenatal samplesScreening of common aneuploidies(chromosomes 13, 18, 21, X e Y) in Amniotic fluid2 daysLV0045
FISH (Fluorescence In Situ Hybridization) in prenatal samplesScreening of common aneuploidies(chromosomes 13, 18, 21, X e Y)in Chorionic Villus Sampling2 daysLV0882
Confirmation of the effect of Specific Mutation in mRNASequencing of a specific fragment of complementary DNA corresponding to messenger RNA by RT-PCR56 daysLV1682
Screening in maternal bloodSex fetal detection in maternal blood3 daysLV2667
ThrombophiliaSimultaneous analysis of FII, FV and MTHFR28 daysLV0232
ThrombophiliaSimultaneous analysis of FII, FV, MTHFR and SERPIN28 daysLV0578
FISH (Fluorescence In Situ Hybridization) in prenatal samplesSpecific chromosome aneuploidy detection2 daysLV2373
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