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.

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, […]

Breast and ovarian cancer, hereditary

Panel testing recommended at Breda Genetics for this condition: Breast and ovarian cancer (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, RAD51D, PTEN, STK11, TP53) Summary Breast cancer is a major health priority worldwide. Breast cancer develops when transformed cells in the breast begin to grow out of control. It occurs almost entirely in […]

Spinocerebellar ataxias: genetic subtypes

Spinocerebellar ataxias are a group of clinically and genetically heterogeneous disorders. We list below an update on all genetic subtypes, including the most recently identified ones, based on mode of inheritance (Table 1: autosomal dominant; Table 2: autosomal recessive; Table 3: X-linked). Chromosomal locus, gene, mutational spectrum and testing methods are given. Because of significant […]

Spondylometaphyseal dysplasia

Recommended panel testing at Breda Genetics for this condition: Spondylometaphyseal dysplasias and its differential diagnosis (ACP5, BMP2, BMPR1B, C21orf2, COL11A1, COL11A2, COL2A1, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, NEK1, NOG, PAM16, PAPSS2, PCYT1A, PITX1, ROR2, TRAPPC2, TRPV4) Summary Spondylometaphyseal dysplasias are a heterogeneous group of disorders characterized by platyspondyly (flattened vertebrae) and marked hip and knee […]

Fragile X intermediate alleles: do they impact the reproductive risk?

Summary Fragile X syndrome is an inherited disorder caused by a CGG repeat expansion in the FMR1 gene. The syndrome is characterized by mild-to-severe mental retardation, which may be associated with behavioural disturbances and typical physical signs. As being X-linked, the syndrome shows its typical manifestations in males, although some females may be mildly symptomatic. The syndrome is […]

Fibromyalgia: the genetic differential diagnosis

Recommended Breda Genetics panel testing for this condition (EXOME PANEL): Fibromyalgia, genetic differential diagnosis of (APOPT1, ACADVL, AMPD1, C12ORF62, CAV3, CLCN1, CNBP, COA3, COA5, COA6, COL1A1, COL5A1, COL5A2, COX10, COX14, COX15, COX20, COX6B1, CPT2, ENO3, FARS2, FASTKD2, FMR1, GAA, LDHA, LRPPRC, MTCO1, MTCO2, MTCO3, MTTL1 MTTS1, NOD2, PET100, PFKM, PGAM2, PGM1, PMP22, POLG, PYGM, SCO1, […]