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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, genitourinary tract defects, early onset bone marrow failure, and a

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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 genetically and clinically heterogeneous group of disorders associated with sensory

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Arrivederci Milano!

Many thanks to all visitors for the enthusiastic feedback at the ESHG meeting in Milan! With an internationally-oriented soul since its very beginning, thanks to an energetic team and valuable customers’ inputs, Breda Genetics was able to grow and go even farther in professional and technical achievements, expanding its global horizons in medical genetic testing and scientific innovation. Old and new customers have visited our booth to explore our new

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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, TTC25, ZMYND10) Other recommended genetic testing at Breda Genetics (depending

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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 the amount of salt retained by the kidneys. When aldosterone

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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 (terminal transverse limb defects). In few cases, the skull under

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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 20% of patient there is a combination of thrombocytopenia, elevated

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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 expressivity. The signs and symptoms of this condition vary even

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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 by other clinical signs (overgrowth syndromes). Mutations in a bunch of

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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 normal glomerular filtration rate (GFR). Volume depletion or hypervolemia; renal

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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, less commonly, when the hormone is unable to function optimally

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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 women, but men can get breast cancer too. Hereditary forms

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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 clinical overlap, multigene and multi-method panel testing is recommeded. To

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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 metaphyseal lesions leading to walking and growth disturbances that become

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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 caused, in most cases, by an expansion of 200 or

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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, SCO2, SLC16A1, SPR, SURF1, TACO1, TNFRSF1A, TNXB). Summary Fibromyalgia syndrome

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References for BRCA1/BRCA2 article

Tumor Genetic Testing References for BRCA1/BRCA2 articleAl Bakir M, Gabra H. The molecular genetics of hereditary and sporadic ovarian cancer: implications for the future. Br Med Bull. 2014 Dec;112(1):57-69. Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D. Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis. Medicine (Baltimore). 2016 Oct;95(40):e4975. Castro E, Eeles R. The role of BRCA1

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Current strategies in BRCA1/BRCA2 molecular testing

Tumor Genetic Testing Summary We summarize here strategies to adopt when testing individuals for BRCA1 and BRCA2 mutations based on positive or negative family history. Any comments or personal experiences are welcome in the comments section. For an introduction on the BRCA1 and BRCA2 genes, you can read our BRCA1 and BRCA2 deep dive page here or our clinical card on hereditary breast and ovarian cancer syndrome. Probands from a family with

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BRCA1 and BRCA2: the mutational spectrum

Tumor Genetic Testing Thousands of sequence variants have been so far identified in the BRCA1 and BRCA2 genes through the analysis of breast cancer families and population-based case studies. A total of 19.655 different mutations and polymorphisms are reported in the BRCA1 gene by dal BRCA Exchange, whereas the same database reports 20.734 unique mutations and polymorphisms in the BRCA2 gene (last updated January 2021).

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