Genolife

Molecular Diagnostics
SERVICE CATALOG

Sexually transmitted diseases

CodeStudyDays
INF100Detection of Herpes Simplex Virus 1 (HSV 1)Technique: PCR. Type: qualitative (detection).2
INF101Detection of Herpes Simplex Virus 2 (HSV 2)Technique: PCR. Type: qualitative (detection).2
INF102Detection of Herpes Simplex Virus 1 and 2 (HSV 1 and 2)Technique: PCR. Type: qualitative (detection).2
INF103Detection of Chlamydia trachomatisTechnique: PCR. Type: qualitative (detection).2
INF104Detection of Neisseria gonorrhoeaeTechnique: PCR. Type: qualitative (detection).2
INF105Detection of Trichomonas vaginalisTechnique: PCR. Type: qualitative (detection).2
INF106Detection of Mycoplasma genitaliumTechnique: PCR. Type: qualitative (detection).2
INF107Ureaplasma urealyticum detectionTechnique: PCR. Type: qualitative (detection).2
INF108Detection of Ureaplasma parvumTechnique: PCR. Type: qualitative (detection).2
INF109Detection of Mycoplasma hominisTechnique: PCR. Type: qualitative (detection).2
INF110Treponema pallidum (syphilis) detectionTechnique: PCR. Type: qualitative (detection).2
INF111Detection and typing of Human Papillomavirus (HPV)44 viral subtypes analyzed. High risk (HR): 16, 18, 26, 31, 33, 34, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66, 67, 68, 70, 73 and 82. Low risk (LR): 6, 11, 13, 32, 40, 42, 43, 44, 54, 55, 57, 61, 62, 69, 71, 72, 81, 83, 84, 87, 89 and 90. Technique: PCR. Type: qualitative (detection).3
INF112Sexually Transmitted Diseases (STD) Panel 3Herpes 1, Herpes 2 and Chlamydia. Technique: PCR. Type: qualitative (detection).3
INF113Sexually Transmitted Diseases (STD) Panel 4HPV, Herpes 1, Herpes 2 and Chlamydia. Includes HPV genotype. Technique: PCR. Type: qualitative (detection).3
INF114Sexually Transmitted Diseases (STD) Panel 6 - MENHPV, Herpes 1, Herpes 2, Mycoplasma, Ureaplasma and Neisseria gonorrhoeae. Includes HPV genotype (44 subtypes). Technique: PCR. Type: qualitative (detection).3
INF115Sexually Transmitted Diseases (STD) Panel 7HPV, Herpes 1, Herpes 2, Chlamydia, Neisseria gonorrhoeae, Mycoplasma genitalium and Trichomonas vaginalis. Technique: PCR. Type: qualitative (detection).3
INF116Sexually Transmitted Diseases (STD) Panel 8HPV, Herpes 1, Herpes 2, Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium, Ureaplasma urealyticum and Trichomonas vaginalis. Technique: PCR. Type: qualitative (detection).3
INF117Sexually Transmitted Diseases (STD) Panel 11HPV, Herpes 1, Herpes 2, Chlamydia, Neisseria gonorrhoeae, Mycoplasma genitalium, Mycoplasma hominis, Ureaplasma urealyticum, Ureaplasma parvum, Treponema pallidum and Trichomonas vaginalis. Technique: PCR. Type: qualitative (detection).3
INF118HIV screeningTechnique: qPCR. Type: qualitative (detection).6
INF119HIV viral loadTechnique: qPCR. Type: quantitative (quantity).6

Respiratory diseases

CodeStudyDays
INF120Mycobacterium tuberculosis detectionTechnique: PCR. Type: qualitative (detection).2
INF121Detection of Coccidioides immitis and C. posadasiiTechnique: PCR. Type: qualitative (detection).2
INF122Mycobacterium tuberculosis, Coccidioides immitis and C. posadasii PanelTechnique: PCR. Type: qualitative (detection).3
INF123SARS-COV2 RT-qPCR COVID-19Technique: RT-qPCR. Type: quantitative (detection and monitoring).1
INF124SARS-COV2 RT-qPCR COVID-19 + Influenza (H1N1, A and B)Technique: RT-qPCR. Type: quantitative (detection and monitoring).1
INF125Influenza H1N1, Influenza A and B PanelTechnique: qPCR. Type: qualitative (detection).2
INF126SARS-COV2 Antigen + Influenza A-BCombined rapid detection of SARS-COV2 antigen and Influenza A and B.1
INF127Respiratory diseases panelRV16 viruses and bacteria. Viruses: Influenza A-H1 (pdm09), A-H3 and B, respiratory syncytial virus A and B, Adenovirus, Enterovirus, Metapneumovirus, Parainfluenza (1, 2, 3, 4), Bocavirus 1/2/3/4, Coronavirus (229E, NL63 and OC43), Rhinovirus. Bacteria: Chlamydophila pneumoniae, Haemophilus influenzae, Legionella pneumophila, Mycoplasma pneumoniae, Streptococcus pneumoniae, Bordetella parapertussis, Bordetella pertussis. Technique: multiplex qPCR. Type: qualitative.5

Diseases of pathogens in the bloodstream

CodeStudyDays
INF128Cytomegalovirus detectionTechnique: PCR. Type: qualitative (detection).5
INF129Epstein Barr Virus DetectionTechnique: qPCR. Type: qualitative (detection).5
INF130Epstein Barr Virus viral loadTechnique: qPCR. Type: quantitative (quantification).5
INF131Detection of Hepatitis B VirusTechnique: PCR. Type: qualitative (detection).5
INF132Viral load for Hepatitis BTechnique: qPCR. Type: quantitative (quantity).8
INF133Hepatitis C screeningTechnique: RT-PCR. Type: qualitative (detection).7
INF134Viral load for Hepatitis CTechnique: RT-PCR. Type: quantitative (quantity).7
INF135Toxoplasma gondii detectionTechnique: PCR. Type: qualitative (detection).9
INF136Brucella detectionTechnique: PCR. Type: qualitative (detection).5
INF137Rubella Virus DetectionTechnique: qPCR. Type: qualitative (detection).5
INF138Varicella zoster detectionTechnique: PCR. Type: qualitative (detection).5
INF139Dengue detectionTechnique: PCR. Type: qualitative (detection).7
INF140Virus Panel: Dengue, Zika and ChikungunyaTechnique: PCR. Type: qualitative (detection).7
INF141Rickettsia (Lyme) detectionTechnique: PCR. Type: qualitative (detection).9
INF142Panel Tick-borne diseasesDetection of arthropod-borne bacteria: Rickettsia sp., Rickettsia typhus group, Rickettsia spotted fever group, Erhlichia, Anaplasma, Francisella, Bartonella, Borrelia and Coxiella. Technique: multiplex PCR + reverse hybridization. Type: qualitative (detection).5

Diseases of gastrointestinal pathogens

CodeStudyDays
INF143Detection of Salmonella sp.Technique: qPCR. Type: qualitative (detection).5
INF144Helicobacter pylori detectionTechnique: PCR. Type: qualitative (detection).4
INF145Complete gastrointestinal panelViruses, bacteria, parasites and helminths. Bacteria: Salmonella, Shigella spp./E. coli (EIEC) (no difference) and Campylobacter spp. Viruses: Adenovirus F, Rotavirus, Norovirus and Astrovirus. Parasites: Entamoeba histolytica, Giardia lamblia, Dientamoeba fragilis, Cryptosporidium spp, Blastocystis hominis and Cyclospora cayetanensis. Helminths: Taenia spp, Ancylostoma spp, Ascaris spp, Enterobius vermicularis, Enterocytozoon spp./Encephalitozoon spp, Hymenolepis spp, Necator americanus, Strongyloides spp and Trichuris trichiura. Technique: qPCR. Type: qualitative (detection).5

Various pathogens

CodeStudyDays
INF146Meningitis/Encephalitis FilmArray™ PanelBacteria: Escherichia coli K1, Haemophilus influenzae, Listeria monocytogenes, Neisseria meningitidis, Streptococcus agalactiae and Streptococcus pneumoniae. Viruses: Cytomegalovirus (CMV), Enterovirus, Herpes Simplex Virus 1 (HSV-1), Herpes Simplex Virus 2 (HSV-2), Herpes Virus 6 (HHV-6), Parechovirus and Varicella Zoster Virus (VZV). Fungi: Cryptococcus neoformans/gattii. Technique: Multiplex PCR (FilmArray™). Type: qualitative (detection).5
INF147Bacterial identification (16S)Identification of genus and species by 16S region. Technique: PCR and Sanger sequencing. Type: qualitative (detection).7
INF148Identification of fungus (STI)Identification of genus and species by ITS region. Technique: PCR and Sanger sequencing. Type: qualitative (detection).7
INF149Fungal (ITS) and bacterial (16S) identificationAnalysis for the identification of genus and species. Recommended in immunocompromised patients. Technique: Sanger sequencing. Type: qualitative (detection).7
INF150Complementary detection of Bacteria vs. FungiApplies to cases where an infectious panel was run and was negative and seeks to identify if there is fungus or bacteria in the sample. Technique: PCR (does not include shipping). Type: qualitative (detection).3
INF151Detection Bacteria and fungiIn new samples where you only want to know if there is presence of fungus or bacteria. Technique: PCR. Type: qualitative (detection).3
INF152Detection of Free-Living Amoebae (Acanthamoeba spp. and Naegleria spp.)Analysis in pool water. Technique: PCR. Type: qualitative (detection).3

Exomes

CodeStudyDays
GC100Whole Clinical Exome SequencingCoverage: ~20,000 genome-wide coding region genes +/- 10bp, with greater depth in regions of clinical interest (OMIM®, HGMD®). Includes ACMG panel. Technique: NGS.45
GC101Clinical Complete Exome + CNVs + mtDNA~20,000 coding genes +/- 10bp. CNVs: 25x deletions and duplications. mtDNA: 37 genes with 25x coverage. Includes ACMG panel. Technique: NGS.45
GC102Clinical Exome SequencingSequencing of ~5,000 genes. Pathogenic variants according to ACMG criteria. Technique: NGS.45
GC103Complete Clinical Exome + CNVs + mtDNA TRIO~20,000 coding genes +/- 10bp. CNVs 25x. mtDNA with 25x coverage. Trio analysis. Includes ACMG panel. Technique: NGS.45
GC104mtDNA sequencingMitochondrial genes with 500x depth. Recommended in metabolic diseases of mitochondrial origin. Technique: NGS.45
GC105Complete Exoma + CGH 750K~20,000 coding genes +/- 10bp. CNVs by CytoScan® 750K molecular karyotyping. Includes ACMG panel. Technique: NGS, CytoScan® 750K.45
GC106Clinical Exome + ADNfarma + ADNLIFE~20,000 coding genes +/- 10bp, with greater depth in OMIM®/HGMD® regions. Includes ACMG panel. Technique: NGS.45
GC107Whole Genome Sequencing~20,000 coding and non-coding genes. CNVs 25x. mtDNA with 25x coverage. Includes ACMG panel. Technique: NGS.45
GC108Complete Exome (raw data)Delivery of raw data in .Fastq file, without analysis or clinical report. Includes ACMG panel. Technique: NGS.45
GC109Bioinformatics analysis of whole exomeBioinformatics analysis service on whole exome sequencing data.10

NGS Panel

CodeStudyDays
GC1101 to 15 genes sequencing panelGenes 1 to 15 freely selectable. ACMG panel included. Technique: NGS.45
GC111Genetic Metabolic Screening + ADNFarma1,721 genes. 1,556 conditions (metabolic, mitochondrial, nuclear and lysosomal). Includes ADNFarma report and ACMG panel. Technique: NGS.45
GC112Epilepsy Panel + ADNFarma883 genes. 1,369 conditions. Includes ADNFarma report and ACMG panel. Technique: NGS.45
GC113Intellectual disability panel770 genes with 777 conditions analyzed. Includes ACMG panel. Technique: NGS.45
GC114Genetic Autism + ADNFarma + GenoKIDS229 genes. 339 conditions (autism spectrum and developmental regression). Includes ADNFarma and GenoKIDS report. ACMG panel. Technique: NGS.45
GC115Autism + Intellectual Disability + ADNFarma + GenoKIDS999 genes. 832 conditions (autism spectrum, developmental regression and intellectual disability). Includes ADNFarma, GenoKIDS and ACMG panel. Technique: NGS.45
GC116Neurodevelopment Panel240 genes and 693 clinical conditions. Includes panel recommended by ACMG. Technique: NGS.45
GC117Neuropathy Study145 genes associated with neuromuscular diseases. 209 conditions. Includes ACMG panel. Technique: NGS.45
GC118Neuromuscular Panel1,041 genes included. ACMG panel. Technique: NGS.45
GC119Neurodegenerative panel + NeuroLIFE + ADNFarma113 genes associated with Alzheimer's disease, prion disease, hereditary dementias, ALS, Parkinson's and more. Includes NeuroLIFE report (50+ risk genes) and ADNFarma. ACMG panel. Technique: NGS.45
GC120Neurodegenerative Panel113 genes associated with Alzheimer's disease, prion disease, hereditary dementias, ALS and Parkinson's disease. ACMG panel. Technique: NGS.45
GC121Syndromic and non-syndromic deafness panel260 genes and 468 conditions. Includes ACMG panel. Technique: NGS.45
GC122Immunological Panel560 genes associated with human inborn errors of immunity (IEI). Includes ACMG panel. Technique: NGS.45
GC123Periodic Fever Panel28 genes and 68 conditions. Includes ACMG panel. Technique: NGS.45
GC124Juvenile Diabetes Panel71 genes and 14 conditions. Type 1 diabetes and MODY. Includes determination of HLA-DR3 and ACMG panel. Technique: NGS.45
GC125Renal Panel388 genes and 693 clinical conditions. ACMG panel. Technique: NGS.45
GC126Cardiovascular Panel + ADNLIFE + ADNFarma259 genes associated with 671 conditions. ACMG panel. Technique: NGS.45
GC127Retinopathy Panel496 genes associated with more than 1,210 conditions. ACMG panel. Technique: NGS.45
GC128Bone Dysplasias Panel411 genes and 405 conditions associated with bone dysplasias. ACMG panel. Technique: NGS.45
GC129Duchenne and Becker muscular dystrophy (sequencing)Sequencing of complete exonic regions of the DMD gene. ACMG panel. Technique: NGS.45
GC130Duchenne and Becker muscular dystrophy (sequencing + deletions)Complete diagnosis: sequencing of the DMD gene and detection of duplications/deletions. ACMG panel. Technique: NGS and PCR by MLPA.45
GC131Panel for Charcot-Marie-Tooth154 genes and 145 associated conditions. ACMG panel. Technique: NGS.45
GC132Rett syndromeSequencing of complete exonic regions of MECP2, CDKL5 and NTNG1 genes. ACMG panel. Technique: NGS.45
GC133Marfan syndromeSequencing of complete exonic regions of TGFBR1, TGFBR2 and FBN1 genes. ACMG panel. Technique: NGS.45
GC134Cystic Fibrosis (sequencing)Sequencing of complete exonic regions of the CFTR gene. ACMG panel. Technique: NGS.45
GC135Female InfertilityKaryotype G-bands + 105 genes with 96 conditions (Bardet-Biedl, hypogonadotropic hypogonadism, ovarian failure, etc.). ACMG panel. Technique: NGS.45
GC136Male InfertilityKaryotype G-bands + 139 genes with 128 conditions (Bardet-Biedl, hypogonadism, spermatogenic failure, etc.). ACMG panel. Technique: NGS.45
GC137Genetic Carrier Panel445 genes associated with severe and prevalent disorders. ACOG and ACMG recommendations. Includes analysis of SMA, Fragile X with AGG disruptions and X-linked disorders and 21.25
GC138DUO Genetic Carrier Panel445 genes for pair analysis. ACOG and ACMG recommendations. Includes SMA, Fragile X with AGG and X-linked and 21. Technique: NGS.25
GC139HLA typing by sequencingTransplant compatibility: HLA Class I (A, B, C) and Class II (DRB1, DR3/4/5, DQA/DQB, DPA/DPB). Technique: NGS.45
GC140Bone marrow failure / anemia panel283 genes and 425 conditions. Includes panel recommended by ACMG. Technique: NGS.45

Point mutation

CodeStudyDays
GC141Duchenne and Becker Muscular Dystrophy DeletionDetection of duplications and deletions of the DMD gene. Technique: PCR by MLPA.7
GC142Huntington's diseaseIdentification of the CAG triplet expansion of the HTT gene. Technique: PCR with fragment analysis by capillary electrophoresis.30
GC143PCR Microdeletions of the Y chromosomeAZF region. Detects SY14, SY81, SY86, SY84, SY182, SY121, SYPR3, SY124, SY127, SY128, SY130, SY133, SY134, SY145, SY152, SY242, SY208, SY254, SY255, and SY157.25
GC144Y chromosome repeatsStudy for Turner syndrome. Technique: PCR.4
GC145Fragile X Syndrome (FXS)Most frequent cause of hereditary mental retardation, due to expansion of the CGG trinucleotide in the FMR1 gene. Technique: triplet expansion by PCR and capillary electrophoresis.22
GC146Spinal Muscular Atrophy (SMA)SMN1 and SMN2 genes. Degeneration of anterior horn cells of the spinal cord. Technique: allele-specific qPCR, ddCt.22
GC147Cystic FibrosisDetection of duplications and deletions of the CFTR gene (including DF508 point mutation). Technique: PCR by MLPA with capillary electrophoresis.10
GC148Variant segregationFor patients with pathogenic variant identified by sequencing, evaluating segregation in relatives. Technique: Sanger sequencing.45
GC149750K Molecular KaryotypingArray CGH for detection of copy number alterations. Indicated in Pediatrics, Neuropediatrics and Gynecology. 12,000 OMIM genes and more than 36,000 RefSeq. Technique: CytoScan® 750K.25
GC150Triplet expansion panel for ataxiasAnalysis of 11 genes: ATN1 (DRPLA), ATXN1, ATXN2, ATXN3, CACNA1A (SCA6), ATXN7, ATXN8OS/ATXN8, ATXN10, PPP2R2B (SCA12), TBP (SCA17) and FXN. Technique: NGS.95
GC151Silver-Russell Syndrome (SRS)Analysis of deletions/duplications in region 11p15 and methylation status of DMR1 (H19) and DMR2 (KCNQ1OT1). Technique: ms-MLPA.35
GC152Prader-Willi / Angelman SyndromeAnalysis of methylation, deletions and duplications in region 15q11-13. Includes SNRPN gene. Technique: MS-MLPA.35

Cytogenetics

CodeStudyDays
GC153Peripheral blood karyotyping with photographyGTG bands in 20 metaphases. Technique: cell culture. Type: qualitative (detection).12
GC154Peripheral blood karyotyping for PAIRSGTG bands in 20 metaphases. Technique: cell culture. Type: qualitative (detection).10
GC155High resolution peripheral blood karyotypingGTG bands in 20 metaphases. Technique: cell culture. Type: qualitative (detection).10
GC156Peripheral blood karyotypeGTG bands in 50 metaphases. Technique: cell culture. Type: qualitative (detection).10
GC157Peripheral blood karyotype with chromosomal fragilityAnalysis with mitomycin. Technique: cell culture. Type: qualitative (detection).17
GC158Bone marrow or blood karyotype of oncology patientGTG bands in 20 metaphases. Technique: cell culture. Type: qualitative (detection).10
GC159GTG banded karyotyping of tissues or products of conceptionTechnique: cell culture. Type: qualitative (detection).20
GC160Karyotyping in GTG bands of amniotic fluidTechnique: cell culture. Type: qualitative (detection).14
GC161Chromosomal FISHFluorescence in situ hybridization for chromosomal analysis.12

Prenatal

CodeStudyDays
GC1623 syndromes + aneuploidies X & Y, NON INVASIVEIncludes sexing. Chromosomes 13, 18, 21, X and Y. Technique: NGS.12
GC1634 syndromes + aneuploidies X & Y, NON INVASIVEIncludes sexing. Chromosomes 13, 18, 21, X, Y and deletion 22q11.2 (DiGeorge). Technique: NGS.12
GC1648 syndromes + aneuploidies X & Y, NON INVASIVEIncludes sexing. Chromosomes 13, 18, 21, X, Y, deletion 22q11.2 (DiGeorge), Prader-Willi, Angelman, Cri-du-Chat and deletion 1p36. Technique: NGS.12
GC165Prenatal_total NON INVASIVEAnalysis of aneuploidies, deletions and duplications (CNVs) greater than 7 Mb. Does not include 22q11.2 deletion or Prader-Willi and Angelman syndromes. Technique: NGS.15

Genomic Medicine

CodeStudyDays
MG100ADNFoodStudy that evaluates 8 different categories in relation to your diet and intolerances, as well as dietary recommendations: eating behavior, fat metabolism, predisposition to overweight, physical activity, intolerances, vitamins and micronutrients. Technique: microarray and qPCR.25
MG101GenoKIDS + Neuroregulation PanelStudy that evaluates 11 different categories in relation to your diet and intolerances, as well as predispositions to immune, neurological and orthopedic diseases: dietary behavior, fat metabolism, predisposition to overweight, dietary suggestions, physical activity, intolerances, vitamins, micronutrients, immune, neurological and orthopedic. It also includes a panel of folate metabolism, serotonin, dopamine, oxidative stress and GABA. Technique: microarray analysis and qPCR.25
MG102DermaGENStudy that evaluates 5 different categories in relation to your skin health: intolerances, vitamins, micronutrients, clinical dermatological and aesthetic. Technique: microarray and qPCR.25
MG103ADNSportStudy evaluating 10 different categories: dietary behavior, fat metabolism, predisposition to overweight, dietary suggestions, micronutrients, intolerances, vitamins, type of exercise (strength, power and speed), risk of injury and recovery capacity. Technique: microarray and qPCR.25
MG104VENUSLifeStudy evaluating 8 different categories: polycystic ovary syndrome (PCOS), feeding behavior, fat metabolism, predisposition to overweight, vitamins, micronutrients, metabolism and thrombopanel. Technique: microarray and qPCR.25
MG105AlerGENGenetic profile of allergies. HLA haplotype analysis. Technique: microarray and qPCR.25
MG106ADNFarmaNew pharmacogenetics study that evaluates how the patient's metabolism is with respect to a drug. 34 genes are analyzed and more than 260 drugs are reported. It includes MTHFR + HLA + dopamine and serotonin. It is possible to customize the report indicating the drugs of interest. Technique: microarray and qPCR.25
MG107ADNLIFEStudy that evaluates 14 different categories in relation to your diet, intolerances and predispositions to chronic diseases: eating behavior, fat metabolism, predisposition to overweight, dietary suggestions, physical activity, intolerances, vitamins, micronutrients, cardiovascular, metabolism, immunological, neurological, orthopedic and dermatological. Technique: microarray and qPCR.25
MG108ADNLIFE + ADNFarmaSpecial price for the request of both studies. Technique: microarray and qPCR.25
MG109Ancestry ReportAnalysis of ~119,000 SNP's for the determination of ancestral origins. Technique: microarray.25
MG110ADNLIFE Premium20 reports related to the following categories: dietary behavior, fat metabolism, predisposition to overweight, dietary suggestions, physical activity, intolerances, vitamins, micronutrients, cardiovascular, metabolism, immunological, neurological, orthopedic, dermatological, DNApharmacy, polycystic ovary syndrome, Alzheimer's risk, thrombopanel, ancestry and allergies. Technique: microarray and qPCR.25
MG111Genetic thrombopanelDetermination of genetic predisposition to the development of thrombosis. Recommended in patients with a history of recurrent miscarriages and thrombotic events of undetermined cause. Analysis of 11 SNP's in the following genes: AGT, F2, F5, F7, FGB, MTHFR, MTRR, MTR and SERPINE1. Technique: qPCR.5
MG112MTHFR gene variantsDetection of C677T and A1298C mutations. Recommended for people with suspected or diagnosed thrombophilia, cardiovascular disease, elevated plasma total homocysteine, depression, among other conditions. Technique: qPCR.5
MG113APOEDetection of genetic risk associated with Alzheimer's disease. Analysis of the rs429358 and rs7412 variants of the APOE gene. Identifies the 3 configurations of the APOE gene (ε2, ε3 or ε4). Technique: Sanger sequencing.10
MG114Detection of Factor II (rs1799963) and Factor V (rs6025)Technique: qPCR.5
MG115Additional moduleIncorporation of modules (SOP, APOE, MTHFR, cardio, energy metabolic, immune, etc.), except ADNFarma, to a previously submitted Genomic Medicine report.5
MG116Additional ADNFarmaAimed at patients who have previously undergone a Genomic Medicine or NGS study. In case a sample is required, shipping will be charged.7
MG117Polycystic ovary syndrome (PCOS) - Coming SoonAnalysis of 9 variants in the following genes: TNFα, DENND1A, LHCGR, IL6, PPARG, C9ORF3, SOD2, FTO and FSHB. Technique: qPCR.5
MG118Alopecia - Coming soonAnalysis of 22 variants. Technique: microarray.25
MG119GenoLIVE - Coming soonComprehensive study including hereditary cancer, cardiovascular, neurodegenerative, renal, diabetes and thromboembolism panel (NGS + SNPs). Includes DNALIFE, APOE, Neuroregulation Panel, HLA analysis, reduced carrier panel and ACMG panel. Technique: NGS.45

Liquid Biopsy

CodeStudyDays
OM100ProstaGENProstate cancer liquid biopsy: the PCA3 marker is analyzed. Recommended for patients with elevated PSA. Technique: qPCR. Type: quantitative.4
OM101ProstaGEN + CTCsProstate cancer liquid biopsy: markers for the detection of circulating tumor cells (EpCam, E-CAD, CK20, CK7) and the PCA3 marker are analyzed. Recommended for patients with elevated PSA. Technique: qPCR. Type: quantitative.4
OM102OncoCELL liquid biopsyFourteen molecular markers are analyzed: Ep-CAM, E-CAD, CK20, CK7, KI67, EGFR, HER2, ALK, PR, ER, CDX2, VEGF, CDKN2B and PDL1. Recommended in treatment monitoring, timely detection or patient in remission. Technique: RT-qPCR. Type: quantitative.4
OM103Detection of CTCs (circulating tumor cells).Liquid biopsy for the detection of circulating tumor cells CTCs: EpCam, E-CAD, CK20 and CK7. Technique: RT-qPCR. Type: quantitative.4
OM104PDL-1 AnalysisOverexpression study in blood (liquid biopsy). Technique: RT-qPCR. Type: quantitative.3
OM105Additional markerLiquid biopsy, from a sample already processed for OncoCELL. Technique: RT-qPCR. Type: quantitative.2

Germline Mutations

CodeStudyDays
OM106BRCA1 and BRCA2 gene sequencing.Technique: NGS sequencing. Type: qualitative (detection).45
OM107Hereditary cancer panelAnalysis of 239 genes for the identification of germline mutations. Includes ACMG panel. Technique: NGS.45
OM108Hereditary cancer panel plusAnalysis of 239 genes for the identification of germline mutations. Includes ACMG panel. Technique: NGS.45

Somatic Mutations in Tissue

CodeStudyDays
OM109ONCOTISSUSequencing panel of 539 genes. Analyzes somatic mutations, SNV/InDel (523 genes), CNV (59 genes) and fusion (55 genes) from tumor samples. Reports tumor mutational burden (TMB) and homologous recombination deficiency (HRD). Includes microsatellite instability (MSI) and CNV analysis. Technique: NGS (TruSight Oncology 500).40
OM110Microsatellite instability analysis (MSI)Microsatellite instability (MSI) is a condition of genetic hypermutability caused by alterations in the DNA mating error repair (MMR) system. Regions analyzed: BAT25, BAT26, NR21, NR22, NR24, NR27, CAT25 and MONO27. Technique: qPCR.20
OM111V600 mutation of the BRAF geneP.V600E, P.V600D, P.V600K and P.V600R. Technique: qPCR.18
OM112Frequent mutations for the NRAS geneTechnique: qPCR.18
OM113Frequent mutations for the KRAS geneVariants analyzed: G12C, G12x, G13D, A59x, Q61x, K117x and A146x. Technique: qPCR.18
OM114Frequent mutations for the EGFR geneTechnique: qPCR.18
OM115Detection of NTRK1, NTRK2 and NTRK3 gene fusions.Technique: qPCR.18
OM116Known point mutation in ALK, ROS1, RET and MET genes.Technique: qPCR.18

Leukemias

CodeStudyDays
OM117Detection of 8 BCR-ABL fusionsQuantitative Philadelphia chromosome. Detection of major BCR-ABL1 transcripts (b2a2, b2a3, b3a2, b3a3, b3a3, e1a2, e1a3, e19a2 and e19a3) generated by chromosomal translocation t(9;22). Levels are expressed as a percentage ratio of BCR-ABL1 to the reference gene ABL1, adjusted to the international scale (IS). Technique: RT-PCR.10
OM118FISH BCR:ABL1 t(9;22)Philadelphia chromosome. Technique: fluorescence in situ hybridization (FISH).12
OM11928 mutations associated with leukemiasAnalysis of 28 translocations related to acute and chronic leukemia: del1(p32) (STIL-TAL1), t(9;12)(q34;p13) (ETV6-ABL1), t(1;11)(p32;q23) (KMT2A-EPS15), t(9;22)(q34;q11) (BCR-ABL1), t(1;11)(q21;q23) (KMT2A-MLLT11), t(10;11)(p12;q23) (KMT2A-MLLT10), t(1;19)(q23;p13) (TCF3-PBX1), t(11;17)(q23;q21) (KMT2A-MLLT6), t(3;5)(q25;q34) (NPM1-MLF1), t(11;17)(q23;q21) (ZBTB16-RARA), t(3;21)(q26;q22) (RUNX1-MECOM), t(11;19)(q23;p13.1) (KMT2A-ELL), t(4;11)(q21;q23) (KMT2A-AFF1), t(11;19)(q23;p13.3) (KMT2A-MLLT1), t(5;12)(q33;p13) (ETV6-PDGFRB), t(12;21)(p13;q22) (ETV6-RUNX1), t(5;17)(q35;q21) (NPM1-RARA), t(12;22)(p13;q11) (ETV6-MN1), t(6;9)(p23;q34) (DEK-NUP214), t(15;17)(q24;q21) (PML-RARA), t(6;11)(q27;q23) (KMT2A-AFDN), inv.(16)(p13;q22) (CBFB-MYH11), t(8;21)(q22;q22) (RUNX1-RUNX1T1), t(16;21)(p11;q22) (FUS-ERG), t(9;9)(q34;q34) (SET-NUP214), t(17;19)(q22;p13) (TCF3-HLF), t(9;11)(p22;q23) (KMT2A-MLLT3) and t(X;11)(q13;q23) (KMT2A-FOXO4). Technique: qPCR (Hemavision).10
OM120FISH PML-RARa t(15;17) LMA-FABAuxiliary in the diagnosis of hematological malignancies, identification of translocation 15;17 [t(15;17)]. Technique: fluorescence in situ hybridization (FISH).10
OM121PML:RAR ALPHA t(15;17) qualitative PCR FUSIONOncogenic fusion present in >99% of acute promyelocytic leukemia (APML-M3) cases. Technique: qPCR.12
OM122FISH RUNX1-RUNX1T1 [AML-ETO t(8;21)].Most frequent translocation observed in abnormal karyotypes, associated with acute myeloid leukemia (AML) subtype M2. Technique: fluorescence in situ hybridization (FISH).12
OM123PCR for the RUNX1::RUNX1T1 t(8;21) (AML1/ETO) fusion.Frequent transcribed fusion in acute myeloid leukemia. Technique: qPCR.12
OM124FISH IGH::MYC t(8;14)Burkitt's lymphoma, as well as other cases of acute lymphoblastic leukemia and B-cell lymphoma. Technique: fluorescence in situ hybridization (FISH).12
OM125PCR for JAK2 V617F (exon 14)The V617F mutation of the JAK2 gene is associated with myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis. Technique: qPCR.12
OM126PCR for mutations in CALR gene (exon 9)Exon 9 of the CALR gene: region of the gene susceptible to mutations associated with myeloproliferative disorders. Technique: qPCR.15
OM127Somatic NGS panel (leukemia)Genes: TP53, KRAS, NRAS, BRAF, DIS3 and FAM46C or TENT5C. Technique: NGS.45
OM128Oncohematological FISHFISH study for oncohematological analysis.5

Identity and Paternity Tests

CodeStudyDays
ID100Paternity test2 samples (child and presumed father). Technique: STRs 23 markers.5
ID101Extra profileOne additional sample in a paternity or family test (shipping not included). Technique: STRs 23 markers.7
ID102Paternity test with unusual sample2 samples (child and presumed father). Technique: STRs 23 markers.7
ID103Extra profile unusual sampleOne additional sample in a paternity or family test (shipping not included). Technique: STRs 23 markers.7
ID104Individual identification profileTechnique: STRs 23 markers.7
ID105Grandparentage test3 samples (child, presumed grandparent and mother). Technique: STRs 23 markers.7
ID106Sisterhood study3 samples (presumed siblings and common parent). Technique: STRs 23 markers.7
ID107Avuncular test3 samples (child, presumed uncle/uncle and mother). Technique: STRs 23 markers.7
ID108Paternal lineage test (Y chromosome)1 male sample. Technique: STRs.10
ID109Paternal lineage testing (Y-chromosome) - comparative2 male samples. Technique: STRs.10
ID110Maternal lineage profile (mtDNA)23 SNPs from 1 female sample. Technique: STRs.10
ID111Maternal lineage testing (mtDNA) - comparative2 female samples. Technique: STRs.10
ID112Unusual infidelity test1 unusual sample + 1 reference sample. Technique: STRs 23 markers.10
ID113Unusual DNA extractionGenetic material obtained from 1 unusual sample. Technique: STRs 23 markers.2
ID114DNA extractionGenetic material obtained from 1 normal sample. Technique: STRs 23 markers.2
ID115Unusual sexingObtaining the genus of 1 unusual sample. Technique: PCR. Sample type 2.5
ID116Legal testing with Genolife Expert3 samples (mother, child and alleged father). Includes test, report and expertise. Technique: STRs 23 markers.10
ID117Legal paternity WITHOUT an expert witness3 samples (mother, child and presumed father) with report and chain of custody included. Technique: STRs 23 markers.7
ID118Legal Paternity WITHOUT Expert W/ Expert's Report3 samples (mother, child and presumed father) with report and chain of custody included. Technique: STRs 23 markers.7

Prenatal Parenting

CodeStudyDays
ID119NON-INVASIVE Prenatal Paternity - without sexing2 samples. Technique: NGS, SNP analysis.15
ID120NON INVASIVE Prenatal Paternity - with sexing2 samples. Technique: NGS, SNP analysis.15
ID121Extra sample of the alleged fatherAdditional sample from the alleged father in prenatal paternity testing.15
ID122NON INVASIVE Prenatal SexingFrom 11 weeks of gestation. Technique: qPCR.15
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