| Aneuploidy detection by QF-PCR (chromosomes 13,18, 21, X and Y) in Amniotic Fluid (AF) | 5 days | LV2145 | +Info |
| Chickenpox PCR | 14 days | LV2152 | +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 |
Hypogonadotropic hypogonadism 1 with or without anosmia | Detection of deletions and/or duplications in ANOS1 gene by MLPA. | 28 days | LV2894 | +Info |
Cystic Fibrosis | Detection of deletions and/or duplications in theCFTR gene by MLPA. | 42 days | LV2663 | +Info |
Hereditary Breast and Ovarian Cáncer | Detection of deletions and/or duplicationsin TP53 gene by MLPA | 28 days | LV2974 | +Info |
Li Fraumeni Syndrome | Detection of deletions and/or duplicationsin TP53 gene by MLPA | 28 days | LV2974 | +Info |
Y chromosome microdeletions | Detection of deletions in regions AZFa, AZFb, AZFc of the Y chromosome, associated to male infertility | 28 days | LV0224 | +Info |
Hereditary Breast and Ovarian Cáncer | Detection of large deletions and/or duplications in BRCA1 and BRCA2 genes by MLPA | 28 days | LV0187 | +Info |
Hereditary Breast and Ovarian Cáncer | Detection of large deletions and/or duplications in BRCA1 gene by MLPA | 28 days | LV1212 | +Info |
Hereditary Breast and Ovarian Cáncer | Detection of large deletions and/or duplications in BRCA2 gene by MLPA | 28 days | LV1213 | +Info |
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Detection of large deletions and/or duplications in the CYP21A2 gene by MLPA | 28 days | LV1293 | +Info |
FISH (Fluorescence In Situ Hybridization) in prenatal samples | Detection of microdeletion syndromes | 21 days | LV1345 | +Info |
Factor V (Leiden) deficiency | Detection of mutation R506Q in the F5 (Factor V) gene | 28 days | LV0190 | +Info |
MTHFR deficiency | Detection of polymorphism A222Vin the MTHFR gene | 28 days | LV0052 | +Info |
Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
Hereditary Breast and Ovarian Cáncer | Detection of the c.156_157insAlu mutation in the BRCA2 gene | 28 days | LV4126 | +Info |
Congenital bilateral absence of vas deferens | Detection of the poli-T polymorphism, associated with male infertility | 28 days | LV1276 | +Info |
Gonadal Dysgenesis (XY Female) | Determination of the presence or absence of the SRY gene by PCR | 28 days | LV0226 | +Info |
XX Male syndrome | Determination of the presence or absence of the SRY gene by PCR | 28 days | LV0226 | +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 |
Plasminogen activator inhibitor-1 deficiency | Genotyping of the 4G/5G polymorphism in the 5'UTR region of the SERPINE1 gene | 28 days | LV0531 | +Info |
Genetic Linkage Analysis | Haplotypes analysis (includes three familymembers and four genetic markers) | Consult | LV0036 | +Info |
FISH (Fluorescence In Situ Hybridization) in prenatal samples | Identification of satellited supernumerary marker chromosomes | 21 days | LV3294 | +Info |
| Karyotype in Amniotic fluid | 21 days | LV0043 | +Info |
Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
Hereditary Breast and Ovarian Cáncer | MAMMA 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 days | LV1353 | +Info |
Fetal akinesia deformation sequence, | Next Generation Sequencing of 2 gene panel: DOK7, RAPSN | 42 days | LV2183 | +Info |
Atelosteogenesis, type I, III, AD, Atelosteogenesis II AR, De la Chapelle dysplasia. | Next Generation Sequencing of 2 gene panel: FLNB, SLC26A2 | 42 days | LV2200 | +Info |
Filamin group and related disorders: Frontometaphyseal dysplasia, Atelosteogenesis 1, 3, FG 2, Melnick-Needles, Larsen, Frank-ter Haar syndromes , Otopalatodigital t | Next Generation Sequencing of 3 gene panel: FLNA, FLNB, SH3PXD2B. | 42 days | LV2203 | +Info |
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 days | LV2212 | +Info |
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, SOX2 | 42 days | LV2189 | +Info |
Sulphation disorders group: Achondrogenesis 1B, Atelosteogenesis 2, Diastrophic dysplasia, Multiple Epiphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Larsen and Ehlers-Danlos musculo-co | Next Generation Sequencing of 4 gene panel: CHST14, CHST3, PAPSS2, SLC26A2 | 42 days | LV2201 | +Info |
Asphyxiating thoracic dysplasia (ATD; Jeune) types 2, 3, 4, 5. | Next Generation Sequencing of 4 gene panel: DYNC2H1, IFT80, TTC21B, WDR19. | 42 days | LV2206 | +Info |
Achondrogenesis, type II or hypochondrogenesis, Achondrogenesis IA, IB, Fibrochondrogenesis, autosomal recessive. | Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, SLC26A2, TRIP11. | 42 days | LV2196 | +Info |
Severe spondylodysplastic dysplasias: Chondrodysplasia, lethal neonatal, with snail-like pelvis o Schneckenbecken dysplasia, Achondrogenesis 1A , Achondrogenesis 2, Platyspo | Next Generation Sequencing of 6 gene panel: COL11A1, COL2A1, SLC26A2, SLC35D1, TRIP11, TRPV4. | 42 days | LV2211 | +Info |
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 days | LV2207 | +Info |
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 days | LV2205 | +Info |
Hereditary Breast and Ovarian Cáncer | NGS 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, XRCC3 | 42 days | LV4353 | +Info |
Hereditary Breast and Ovarian Cáncer | NGS 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, XRCC3 | 42 days | LV4339 | +Info |
Porencephaly 1 | NGS and Sanger Sequencing of the COL4A1 gene | 42 days | LV2408 | +Info |
Cystic Fibrosis | NGS sequencing of the CFTR gene | 35 days | LV3427 | +Info |
Screening in maternal blood | Non-invasive prenatal testing for fetal aneuploidies of chromosomes 13, 18, 21.BabyTest | 7 days | LV3470 | +Info |
Screening in maternal blood | Non-invasive prenatal testing for fetal aneuploidy (all chromosomes). BabyTest Plus | 7 days | LV2883 | +Info |
Screening in maternal blood | Non-invasive prenatal testing of fetal chromosomal aneuploidies and CNVs in maternal blood. SG BabyTest Advanced | 7 days | LV3779 | +Info |
| Parvovirus.B19 PCR | 14 days | LV2153 | +Info |
Preconception Risk Detection | Preconception screening panel (CFTR -FRAXA) | 49 days | LV0441 | +Info |
| QF-PCR detection of chromosome13, 18, 21, X and Y anomalies and maternal cell contamination | 5 days | LV3574 | +Info |
Screening in maternal blood | RhD detection in maternal blood | 3 days | LV2671 | +Info |
| Rubella PCR | 14 days | LV2151 | +Info |
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Sanger sequencing and detection of deletions/duplications by MLPA in the CYP21A2 gene | 42 days | LV4219 | +Info |
Interstitial Lung Disease due to ABCA3 Deficiency | Sanger Sequencing of the ABCA3 gene | Consult | LV2425 | +Info |
Hypogonadotropic hypogonadism 1 with or without anosmia | Sanger Sequencing of the ANOS1 gene | 49 days | LV2330 | +Info |
Infertility associated to Spermatogenic failure 5 | Sanger Sequencing of the AURKC gene | 28 days | LV3161 | +Info |
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency | Sanger sequencing of the CYP21A2 gene | 42 days | LV0764 | +Info |
Warsaw breakage syndrome | Sanger sequencing of the DDX11 gene | 60 days | LV3559 | +Info |
Hydrops fetalis, nonimmune, and/or atrial septal defect | Sanger sequencing of the EPHB4 gene | 42 days | LV3890 | +Info |
Hereditary leiomyomatosis and renal cell cancer syndrome | Sanger sequencing of the FH gene | 42 days | LV0775 | +Info |
Follicle-stimulating hormone deficiency, isolated | Sanger Sequencing of the FSHB gene | 21 days | LV2274 | +Info |
Neural tube defects | Sanger Sequencing of the FUZ gene | 42 days | LV3065 | +Info |
Hypogonadotropic hypogonadism 13 with or without anosmia | Sanger sequencing of the KISS1 gene | 56 days | LV3400 | +Info |
Hypogonadotropic hypogonadism 8 with or without anosmia | Sanger sequencing of the KISS1R gene | 56 days | LV3401 | +Info |
Precocious puberty central 2 | Sanger sequencing of the MKRN3 gene | 56 days | LV3402 | +Info |
Colorectal cancer, hereditary nonpolyposis, type 5 | Sanger sequencing of the MSH6 gene | 42 days | LV0707 | +Info |
Plasminogen Deficiency type 1 | Sanger Sequencing of the PLG gene | Consult | LV0783 | +Info |
Thrombophilia | Sanger sequencing of the PROCR gene | 56 days | LV3899 | +Info |
Hereditary Breast and Ovarian Cáncer | Sanger Sequencing of the RAD51C gene | Consult | LV1184 | +Info |
Ovarian Cáncer | Sanger sequencing of the RAD51D gene | Consult | LV1414 | +Info |
Fetal akinesia deformation sequence | Sanger Sequencing of the RAPSN gene | 56 days | LV1554 | +Info |
Noonan Syndrome 8 | Sanger sequencing of the RIT1 gene | 32 days | LV3560 | +Info |
Antithrombin III deficiency | Sanger sequencing of the SERPINC1 gene | 35 days | LV0726 | +Info |
Interstitial Lung Disease due to surfactant protein C deficiency | Sanger Sequencing of the SFTPC gene | 28 days | LV2427 | +Info |
Gonadal Dysgenesis (XY Female) | Sanger Sequencing of the SRY gene | 28 days | LV0268 | +Info |
Li Fraumeni Syndrome | Sanger sequencing of the TP53 gene | 35 days | LV0706 | +Info |
Neural tube defects | Sanger Sequencing of the VANGL1 gene | 42 days | LV3066 | +Info |
Neural tube defects | Sanger Sequencing of the VANGL2 gene | 42 days | LV3067 | +Info |
FISH (Fluorescence In Situ Hybridization) in prenatal samples | Screening of common aneuploidies(chromosomes 13, 18, 21, X e Y) in Amniotic fluid | 2 days | LV0045 | +Info |
FISH (Fluorescence In Situ Hybridization) in prenatal samples | Screening of common aneuploidies(chromosomes 13, 18, 21, X e Y)in Chorionic Villus Sampling | 2 days | LV0882 | +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 |
Screening in maternal blood | Sex fetal detection in maternal blood | 3 days | LV2667 | +Info |
Thrombophilia | Simultaneous analysis of FII, FV and MTHFR | 28 days | LV0232 | +Info |
Thrombophilia | Simultaneous analysis of FII, FV, MTHFR and SERPIN | 28 days | LV0578 | +Info |
FISH (Fluorescence In Situ Hybridization) in prenatal samples | Specific chromosome aneuploidy detection | 2 days | LV2373 | +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 |