When Should Whole Exome Sequencing Be Considered? Not every diagnostic challenge is caused by a lack of genetic testing. Quite often, the issue is that the most appropriate genetic tests have not been performed for the clinical situation at hand. Although → Whole Exome Sequencing (WES) is now one of the most comprehensive diagnostic tools
Where: Milan, Italy When: 24-27 May 2025 Breda Genetics Booth: #290 Website
Where: Glasgow, Scotland (UK) When: 10-13 June 2023 Breda Genetics Booth: #282 Website
Summary Polycystic ovary syndrome (PCOS) is a hormonal disorder common among women of reproductive age. Detailed clinical description Polycystic ovary syndrome (PCOS) is a hormonal disorder common among women of reproductive age. Women affected by PCOS experience infrequent or longer menstrual periods or increased levels of androgens. Follicles (cysts) containing fluid appear in the ovaries.
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Another hot question for Geneticists, Andrologists and Gynecologists: does Assisted Reproductive Technology (ART) increase the risk for neurodevelopmental disorders in newborns? The common conception is that, especially when doing Intra-Cytoplasmic Sperm Injection (ICSI), the natural barriers are skipped by the technology and abnormal germline cells (sperm or oocytes) that would be normally depleted, for instance
Recurrent pregnancy loss (RPL): definition and causes Of all the clinically recognized pregnancies, about 15% end in a miscarriage, making this event one of the most common adverse events. Unfortunately, about 2-5% of couples take on recurrent pregnancy loss (RPL). However, “Recurrent pregnancy loss” definition, which according to the European Society of Human Reproduction and
The first NGS platform Talking about the system of the Roche 454 means starting from the dawn of Next Generation Sequencing. The first three Next Generation Sequencing (NGS) platforms were produced by three independent companies which, a little later, were acquired by other industrial groups. System 454 is based on pyrosequencing, a technique based on
An epigenetic event Genomic imprinting, although very studied, has many dark sides, even among healthcare professionals. Here are 10 frequently asked questions with relative answers on this phenomenon. 1. What is genomic imprinting? Genomic imprinting is an epigenetic process that modifies the DNA molecule without changing its nucleotide sequence. Regulator mechanisms of imprinting are not
From parent to child Autosomal dominant inheritance happens when a genetic disorder is caused by a mutation in only one of the two copies of a gene (the paternal or the maternal one). In autosomal dominant inheritance, the disorder is transmitted from the parent to the offspring, but the parents can sometimes be clinically healthy
Only 37 genes Mitochondrial genome is contained in mitochondria, organelles responsible for cellular respiration. It is a small circular molecule present in a high number of copies. Mitochondrial genome has only 37 genes: 24 encode for transfer-RNA (tRNA) and ribosomal RNA (rRNA), while the other 13 genes are protein-coding. About 93% of mitochondrial DNA sequence
mtDNA mutations Genetic disorders with mitochondrial inheritance are those caused by mutations in the mitochondrial DNA. Mitochondrial DNA (often shorten to mtDNA) is contained in mitochondria, which are small organelles whose task is cellular respiration. An unknown number of chromosomes Mitochondrial DNA is made of many small circular double-stranded DNA molecules, called mitochondrial chromosomes (if
This page is for situations where a condition is present from birth or suspected to have a genetic basis, but it is not yet clear whether it is inherited, genetic, or congenital. In these cases, a genetic evaluation may still be indicated to clarify the underlying cause and guide the diagnostic pathway. Let’s start from
Here are some frequently asked questions (and their answers) about mitochondrial inheritance. For a general introduction to the topic you can read Mitochondrial Inheritance and Mitochondrial Genome. 1. Is mitochondrial DNA exclusively of maternal origin? Mitochondrial DNA is of almost exclusively maternal origin, even if a very little amount, clinically irrelevant and without any implication
Panel testing recommended at Breda Genetics for this condition: Skeletal dysplasias, extended (ACP5, AGPS, ALPL, ARSE, B3GAT3, BGN, BMPR1B, BMP2, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSGALNACT1, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, FZD2, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LBR, P3H1, LIFR, LONP1, MATN3, MMP13,
Two mutated alleles Autosomal recessive inheritance is defined as the manifestation of disease only when both the copies of a gene (maternal and paternal) are mutated. In other words, it is necessary that the final protein is quantitatively or qualitatively impaired in double dose. In autosomal recessive inheritance, parents are typically healthy carriers of a
Whole sequencing of human DNA Whole-genome sequencing (WGS) consists of the sequencing of the entire genome, i.e, of all the human DNA contained in the cell nucleus (about 3 billion nucleotides). With this technique, both coding and non-coding regions of the DNA are sequenced. As such, therefore, whole-genome sequencing includes whole-exome sequencing (i.e. of all coding
Non-Hodgkin lymphoma (NHL) is an immunological cancer developing from lymphocytes. It mainly manifests as painless surface lymph nodes swelling (neck, armpit, groin), but sometimes it can also occur in the digestive system, in the central nervous system, in the bone marrow or in the skin. Several histopathological subtypes exist, which can only be differentiated on the
Panel testing recommended at Breda Genetics for this condition: Bone marrow failure (BRCA2, BRIP1, ERCC4, PALB2, RAD51C, SLX4, AK2, ANKRD26, ATM, ATR, ATRX, C15ORF41, CBL, CDAN1, CEBPA, CTC1, DKC1, ELANE, ETV6, FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCO, FANCP, FANCQ, G6PC3, GATA1, GATA2, GFI1, HAX1, JAGN1, LIG4, MPL, NBN, NHP2,
Panel testing recommended at Breda Genetics for this condition: Obesity (MC4R, LEP, LEPR, POMC, PCSK1, CELA2A, DYRK1B, CEP19, NR0B2, PPARG, ADCY3, NCOA1, SIM1, BDNF) Summary Obesity is a condition in which a person has an excess of body fat and weight. With its complications, obesity is a major global public health concern. It has a
