HIGH THROUGHPUT SEQUENCING IN GENETIC DISORDERS

By sequencing all human genes at once (whole exome and whole genome sequencing), genetic testing can be done in the blink of an eye. Based on the clinical information, we can look immediately at the most appropriate gene or panel or go straight to the interpretation of all data. For every clinical case, we have the right solution.

Breda Genetics deploys an articulated portfolio of tests, which comprises four different whole exome sequencing solutions (MENDEL FULL, EXOME 15MB, EXOME 60MB, EXOME 90MB), whole genome sequencing 30x (GENOME FULL), a list of hundreds of fully customizable exome or genome-based multigene panels (EXOME PANEL, GENOME PANEL), and a complete range of other forefront solutions and ancillary services, from exonic/multiexonic algorithmic CNV analysis based on NGS data (EXOME CNV, GENOME CNV), to family segregation studies, MLPA/qPCR and repeat expansion testing (SANGER CARRIER, SANGER GENE, MLPA/qPCR GENE, REPEAT PLUS).

The landscape of clinical genetics worldwide is often marked by widespread difficulty in accessing genetic counselling and genetic testing, either for geographical reasons, limited budgets or absence of equipped facilities. We make a point of giving access to medical genetics services to as many people as possible, offering acceptable turnaround times and fees. If you are unsure on whether you are in need of genetic testing, please request your genetic counseling now.

Fanconi anemia

Recommended panel testing at Breda Genetics for this condition: Fanconi anemia (BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL,  FANCM, MAD2L2, PALB2, RAD51A, RAD51C, RFWD3, SLX4, UBE2T, XRCC2) Summary Fanconi anemia (FA) is a rare disorder characterized by physical abnormalities such as short stature, skeletal malformations, skin pigmentation abnormalities, microcephaly, […]

Hereditary sensory and autonomic neuropathy

Recommended panel testing at Breda Genetics for this condition: Hereditary sensory and autonomic neuropathy (ATL1, ATL3, DNMT1, DST, ELP1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1) Summary The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a […]

Cystic fibrosis and CFTR-related disorders

Recommended panel testing at Breda Genetics for this condition: Cystic fibrosis and its differential diagnosis (ARMC4, C21ORF59, CA12, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP300, CFTR, DNAAF1, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS8, HYDIN, IL2RG, KTU, LRRC6, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCNN1A, SCNN1B, SCNN1G, SPAG1, TAP1, TAP2, […]

Familial hyperaldosteronism

Recommended panel testing at Breda Genetics for this condition (also including the chimeric gene analysis): Hyperaldosteronism, familial, and its differential diagnosis (CACNA1D, CACNA1H, CYP11B1, CYP11B1/CYP11B2 fusion gene, CLCN2, HSD11B2, KCNJ5, NR3C1, NR3C2, SCNN1B, SCNN1G) Summary Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands produce excess of the hormone called aldosterone. Aldosterone helps control […]

Adams-Oliver syndrome

Recommended panel testing at Breda Genetics for this condition: Adams-Oliver syndrome and its differential diagnosis (ARHGAP31, COL7A1, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, PORCN, RBPJ) Summary Adams-Oliver syndrome (AOS) is a rare genetic condition, which may affect both males and females. The main features are aplasia cutis (an abnormality of skin development, which leads to missing skin on the scalp) and  malformations of the limbs […]

Aicardi-Goutières syndrome

Recommended panel testing at Breda Genetics for Aicardi-Goutières syndrome: Aicardi-Goutières syndrome (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1) Summary Aicardi-Goutières (AGS) syndrome is an extremely rare pathology that mainly affects the brain, the immune system, and the skin. At birth, signs and symptoms of the disorder are mostly absent as onset is usually in the first year of life. In approximately […]

Bardet-Biedl syndrome

Panel testing recommended at Breda Genetics for this condition: Bardet-Biedl syndrome (ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, TTC8, WDPCP) Summary Bardet–Biedl syndrome (BBS) is a rare ciliopathic genetic disorder that affects many systems of the body. This syndrome is pleiotropic with variable […]

Overgrowth syndromes

Panel testing recommended at Breda Genetics for this conditions: Overgrowth syndromes (AKT1, AKT3, APC2, CCND2, CDKN1C, DIS3L2, DNMT3A, EED, EZH2, GNAQ, GPC3, HIST1H1E, MTOR, NFIX, NSD1, OFD1, PDGFRB, PIK3CA, PIK3R2, RNF125, TCF20) Summary Complete or partial somatic overgrowth in infancy, childhood or adolescence (sometimes referred to also as macrosomia) is a genetically determined condition, often accompanied […]

Pseudohypoaldosteronism

Panel testing recommended at Breda Genetics for this condition: Pseudohypoaldosteronism (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4) Summary Pseudohypoaldosteronism (PHA) comprises a heterogeneous group of disorders of electrolyte metabolism characterized by an apparent state of renal tubular unresponsiveness or resistance to the action of aldosterone. It is manifested by hyperkalemia, metabolic acidosis, and a […]

Hereditary hypoparathyroidism, isolated

Panel testing recommended at Breda Genetics for this condition: Hereditary hypoparathyroidism, isolated (PTH, GCM2, CASR) Summary Hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. Hypoparathyroidism manifests when parathyroid hormone (encoded by the PTH gene) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations (defective synthesis or secretion) or, […]