Genetic tests
Search by name or by the purpose of the investigation. The choice depends on the clinical question, medical history and previous tests.
126 tests found
Diagnosis
Broad investigation of the nuclear and mitochondrial genome, guided by the clinical picture.
Diagnosis
Additional reads for difficult regions, available from the beginning or as a second step after NeoGenoma.
Diagnosis
Conjoint analysis to support interpretation of inheritance and novel variants in the patient.
Diagnosis
Integrated investigation of ASD and neurodevelopmental delay using whole-genome sequencing, CNV analysis and a dedicated Fragile X test.
Diagnosis
Rapid genome for critically ill patients with suspected genetic condition.
Diagnosis
Whole exome with mitochondrial genome co-capture and clinical interpretation.
Diagnosis
Patient and family exomes analyzed together to refine interpretation.
Diagnosis
Strategy to investigate variants present in a low proportion in the analyzed sample.
Oncology
Comprehensive genomic profiling of the tumor: somatic alterations in 560 cancer-associated genes, plus TMB and MSI, from tumor tissue DNA.
Oncology
Integrated precision oncology: molecular tumor profile, hereditary cancer predisposition and pharmacogenomics in an integrated report.
Prevention
Preventive genetic test with a report and access to the Longevo app.
Prevention
The same content as Longevo, with pre- and post-test consultations.
Cardiovascular health
Genetic assessment applied to cardiovascular risk and personalized prevention.
Baby health
Complements newborn screening with genetic investigation of selected actionable conditions.
Pharmacogenetics
Pharmacogenomics applied to neurology and psychiatry medicines.
Pharmacogenetics
Pharmacogenomics applied to oncology: assesses genes related to the metabolism, transport and action of chemotherapy drugs and targeted therapies.
Diagnosis
Whole genome sequenced with high-fidelity (HiFi) long reads, with analysis targeted to clinically relevant genes associated with the condition or family history.
Diagnosis
NeoGenoma Omni of the patient with joint analysis in a trio design with both biological parents, to support inheritance interpretation.
Diagnosis
Whole genome (WGS) that combines, in a single report, the investigation of monogenic variants related to the clinical picture and preventive health findings.
Reproductive planning
Whole genome (WGS) that combines clinical investigation, when applicable, with carrier screening for hereditary genetic conditions, including FMR1 and SMN1 analyses.
Diagnosis
Whole genome sequencing (WGS) with analysis targeted to a set of genes selected according to the clinical indication.
Diagnosis
Whole genome sequencing (WGS) with analysis targeted to one gene associated with the clinical condition or family history.
Diagnosis
Exome sequencing with analysis of the coding regions of a specific gene associated with the clinical condition or family history.
Prevention
Exome-based analysis of the APOE gene, determining the genotype formed by the ε2, ε3 and ε4 alleles and the relative risk of Alzheimer disease.
Diagnosis
Sequencing of the ABCD1 gene using targeted exome-based analysis, for the investigation of X-linked adrenoleukodystrophy.
Diagnosis
Sequencing of the ALPL gene using targeted exome-based analysis, for the investigation of hypophosphatasia.
Oncology
Sequencing of the APC gene using targeted exome-based analysis, for the investigation of familial adenomatous polyposis.
Oncology
Sequencing of the BRCA1 gene using targeted exome-based analysis, for the investigation of hereditary breast and ovarian cancer.
Oncology
Sequencing of the BRCA2 gene using targeted exome-based analysis, for the investigation of hereditary breast and ovarian cancer.
Oncology
Sequencing of the CDH1 gene using targeted exome-based analysis, for the investigation of hereditary diffuse gastric cancer.
Diagnosis
Sequencing of the CFTR gene using targeted exome-based analysis, for the investigation of cystic fibrosis.
Diagnosis
Sequencing of the COL1A1 gene using targeted exome-based analysis, for the investigation of osteogenesis imperfecta.
Diagnosis
Sequencing of the COL1A2 gene using targeted exome-based analysis, for the investigation of osteogenesis imperfecta.
Diagnosis
Sequencing of the COL2A1 gene using targeted exome-based analysis, for the investigation of type II collagenopathies, such as Stickler syndrome type 1 and spondyloepiphyseal dysplasia congenita.
Diagnosis
Sequencing of the COL3A1 gene using targeted exome-based analysis, for the investigation of vascular Ehlers-Danlos syndrome.
Diagnosis
Sequencing of the CRTAP gene using targeted exome-based analysis, for the investigation of osteogenesis imperfecta type VII.
Diagnosis
Sequencing of the DMD gene using targeted exome-based analysis, for the investigation of Duchenne and Becker muscular dystrophies.
Diagnosis
Sequencing of the F8 gene using targeted exome-based analysis, for the investigation of hemophilia A.
Diagnosis
Sequencing of the F9 gene using targeted exome-based analysis, for the investigation of hemophilia B.
Diagnosis
Sequencing of the FBN1 gene using targeted exome-based analysis, for the investigation of Marfan syndrome.
Diagnosis
Sequencing of the HFE gene using targeted exome-based analysis, for the investigation of hereditary hemochromatosis.
Diagnosis
Sequencing of the IDS gene using targeted exome-based analysis, for the investigation of mucopolysaccharidosis type II (Hunter syndrome).
Diagnosis
Sequencing of the IDUA gene using targeted exome-based analysis, for the investigation of mucopolysaccharidosis type I.
Diagnosis
Germline sequencing of the KRAS gene using targeted exome-based analysis, for the investigation of Noonan syndrome and cardiofaciocutaneous syndrome.
Diagnosis
Sequencing of the MECP2 gene using targeted exome-based analysis, for the investigation of Rett syndrome.
Diagnosis
Sequencing of the MEFV gene using targeted exome-based analysis, for the investigation of familial Mediterranean fever.
Oncology
Sequencing of the MEN1 gene using targeted exome-based analysis, for the investigation of multiple endocrine neoplasia type 1.
Oncology
Sequencing of the MLH1 gene using targeted exome-based analysis, for the investigation of Lynch syndrome.
Oncology
Sequencing of the MSH2 gene using targeted exome-based analysis, for the investigation of Lynch syndrome.
Oncology
Sequencing of the MSH6 gene using targeted exome-based analysis, for the investigation of Lynch syndrome.
Oncology
Sequencing of the MUTYH gene using targeted exome-based analysis, for the investigation of MUTYH-associated polyposis.
Diagnosis
Sequencing of the P3H1 gene using targeted exome-based analysis, for the investigation of osteogenesis imperfecta type VIII.
Diagnosis
Sequencing of the PPIB gene using targeted exome-based analysis, for the investigation of osteogenesis imperfecta type IX.
Oncology
Sequencing of the PTEN gene using targeted exome-based analysis, for the investigation of PTEN hamartoma tumor syndrome, which includes Cowden syndrome.
Diagnosis
Sequencing of the PTPN11 gene using targeted exome-based analysis, for the investigation of Noonan syndrome.
Diagnosis
Sequencing of the RAF1 gene using targeted exome-based analysis, for the investigation of Noonan syndrome.
Oncology
Sequencing of the RB1 gene using targeted exome-based analysis, for the investigation of retinoblastoma.
Oncology
Sequencing of the RET gene using targeted exome-based analysis, for the investigation of multiple endocrine neoplasia type 2, including familial medullary thyroid carcinoma.
Diagnosis
Sequencing of the RIT1 gene using targeted exome-based analysis, for the investigation of Noonan syndrome.
Diagnosis
Sequencing of the SMN1 gene using targeted exome-based analysis, for the investigation of spinal muscular atrophy.
Diagnosis
Sequencing of the SOS1 gene using targeted exome-based analysis, for the investigation of Noonan syndrome.
Oncology
Sequencing of the STK11 gene using targeted exome-based analysis, for the investigation of Peutz-Jeghers syndrome.
Oncology
Sequencing of the TP53 gene using targeted exome-based analysis, for the investigation of Li-Fraumeni syndrome.
Diagnosis
Sequencing of the TSC1 gene using targeted exome-based analysis, for the investigation of tuberous sclerosis complex.
Diagnosis
Sequencing of the TSC2 gene using targeted exome-based analysis, for the investigation of tuberous sclerosis complex.
Diagnosis
Sequencing of the TTR gene using targeted exome-based analysis, for the investigation of hereditary transthyretin amyloidosis.
Diagnosis
Sequencing of the UBE3A gene using targeted exome-based analysis, for the investigation of Angelman syndrome.
Oncology
Sequencing of the VHL gene using targeted exome-based analysis, for the investigation of von Hippel-Lindau syndrome.
Oncology
Sequencing of the BMPR1A and SMAD4 genes using targeted exome-based analysis, for the investigation of juvenile polyposis syndrome.
Oncology
Sequencing of the BRCA1 and BRCA2 genes using targeted exome-based analysis, for the investigation of hereditary breast and ovarian cancer.
Diagnosis
Sequencing of the COL1A1 and COL1A2 genes using targeted exome-based analysis, for the investigation of osteogenesis imperfecta.
Oncology
Targeted genetic test to search for the Arg337His mutation in the TP53 gene, which is associated with Li-Fraumeni syndrome.
Diagnosis
Targeted genetic test to search for the c.-14C→T mutation in the IFITM5 gene, which is associated with osteogenesis imperfecta type V.
Diagnosis
Targeted genetic test to search for the deltaF508 mutation in the CFTR gene, which is associated with cystic fibrosis.
Diagnosis
Targeted genetic test to search for a mutation in the FGFR3 gene in the investigation of achondroplasia.
Diagnosis
Targeted genetic test to search for a mutation in the FGFR3 gene in the investigation of hypochondroplasia.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the ABCD1 gene, associated with X-linked adrenoleukodystrophy.
Oncology
Targeted genetic test to search for a previously defined specific variant in the APC gene, associated with familial adenomatous polyposis.
Oncology
Targeted genetic test to search for a previously defined specific variant in the BRCA1 gene, associated with hereditary breast and ovarian cancer syndrome.
Oncology
Targeted genetic test to search for a previously defined specific variant in the BRCA1 or BRCA2 gene, associated with hereditary breast and ovarian cancer syndrome.
Oncology
Targeted genetic test to search for a previously defined specific variant in the BRCA2 gene, associated with hereditary breast and ovarian cancer syndrome.
Oncology
Targeted genetic test to search for a previously defined specific variant in the CDH1 gene, associated with hereditary diffuse gastric cancer and lobular breast cancer.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the CFTR gene, associated with cystic fibrosis.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the COL2A1 gene, associated with type II collagenopathies, such as Stickler syndrome type 1 and spondyloepiphyseal dysplasia congenita.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the COL3A1 gene, associated with vascular Ehlers-Danlos syndrome.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the DMD gene, associated with dystrophinopathies, such as Duchenne and Becker muscular dystrophies.
Oncology
Targeted genetic test to search for a previously defined specific variant in the EPCAM gene, associated with Lynch syndrome through deletions that silence the adjacent MSH2 gene.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the F8 gene, associated with hemophilia A.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the F9 gene, associated with hemophilia B.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the FBN1 gene, associated with Marfan syndrome.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the IDS gene, associated with mucopolysaccharidosis type II (Hunter syndrome).
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the IDUA gene, associated with mucopolysaccharidosis type I.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the MEFV gene, associated with familial Mediterranean fever.
Oncology
Targeted genetic test to search for a previously defined specific variant in the MEN1 gene, associated with multiple endocrine neoplasia type 1.
Oncology
Targeted genetic test to search for a previously defined specific variant in the MLH1 gene, associated with Lynch syndrome.
Oncology
Targeted genetic test to search for a previously defined specific variant in the MSH2 gene, associated with Lynch syndrome.
Oncology
Targeted genetic test to search for a previously defined specific variant in the MSH6 gene, associated with Lynch syndrome.
Oncology
Targeted genetic test to search for a previously defined specific variant in the MUTYH gene, associated with MUTYH-associated polyposis.
Oncology
Targeted genetic test to search for a previously defined specific variant in the PALB2 gene, associated with hereditary predisposition to breast cancer.
Oncology
Targeted genetic test to search for a previously defined specific variant in the PMS2 gene, associated with Lynch syndrome.
Oncology
Targeted genetic test to search for a previously defined specific variant in the RET gene, associated with multiple endocrine neoplasia type 2.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the SMN1 gene, associated with spinal muscular atrophy.
Oncology
Targeted genetic test to search for a previously defined specific variant in the TP53 gene, associated with Li-Fraumeni syndrome.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the TSC1 gene, associated with tuberous sclerosis complex.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the TSC2 gene, associated with tuberous sclerosis complex.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the TTR gene, associated with hereditary transthyretin amyloidosis.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the UBE3A gene, associated with Angelman syndrome.
Diagnosis
Targeted genetic test to search for a previously defined specific variant in the VAPB gene, associated with amyotrophic lateral sclerosis type 8 and late-onset spinal muscular atrophy, Finkel type.
Diagnosis
Targeted genetic test to search for the Met694Val mutation in the MEFV gene, which is associated with familial Mediterranean fever.
Diagnosis
Targeted genetic test to search for a mutation in the F2 gene in the investigation of thrombophilia.
Diagnosis
Targeted genetic test to search for a mutation in the F5 gene in the investigation of thrombophilia.
Diagnosis
Targeted genetic test to search for the Val30Met mutation in the TTR gene, which is associated with hereditary transthyretin amyloidosis.
Oncology
Targeted genetic test to search for the Ashkenazi mutations in the BRCA1 and BRCA2 genes, which are associated with hereditary breast and ovarian cancer syndrome.
Diagnosis
Targeted genetic test to search for the C282Y and H63D mutations in the HFE gene, which is associated with hereditary hemochromatosis.
Diagnosis
Targeted genetic test to search for the C282Y, H63D and S65C mutations in the HFE gene, which is associated with hereditary hemochromatosis.
Diagnosis
Targeted genetic test to search for specific mutations in the F2 and F5 genes in the investigation of thrombophilia.
Diagnosis
Targeted genetic test to search for mutations in exon 12 of the CFTR gene, which is associated with cystic fibrosis.
Diagnosis
Targeted genetic test to search for the Z and S mutations in the SERPINA1 gene, which is associated with alpha-1 antitrypsin deficiency.
Diagnosis
Targeted genetic test to search for a previously defined specific variant, by PCR amplification of the target region and next-generation sequencing (NGS).
Diagnosis
Targeted genetic test to search for a previously defined familial variant, by PCR amplification of the target region and next-generation sequencing (NGS).
Oncology
Assessment of the copy number of the BRCA1 and BRCA2 genes by MLPA to detect deletions and duplications in the investigation of hereditary predisposition to breast and ovarian cancer.
Diagnosis
Assessment of the copy number of the NPHP1 gene by MLPA to detect deletions and duplications.
Diagnosis
Assessment of the copy number of the PAH gene by MLPA to detect deletions and duplications.
Oncology
Assessment of the copy number of the PALB2 gene by MLPA to detect deletions and duplications in the investigation of hereditary predisposition to breast, ovarian and pancreatic cancer.
Oncology
Assessment of the copy number of the PTEN gene by MLPA to detect deletions and duplications in the investigation of PTEN hamartoma tumor syndrome.
Diagnosis
Analysis of CGG repeats in the FMR1 gene by PCR and capillary electrophoresis, distinguishing normal, intermediate, premutation and full mutation ranges.
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