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Can we look earlier? Your baby appears healthy. The pregnancy has been uneventful, or perhaps accompanied only by minor concerns. Routine newborn screening — the familiar heel-prick test — has been performed, or will be performed, and there is no specific reason to suspect a genetic disorder. But some genetic diseases are present before their symptoms are. Summarizing, more parents are starting to ask a
“And autistic traits”, “with some autistic-type behaviours”, “some particular fixations on certain interests”, “autistic speech”. These are expressions we frequently hear from parents during genetic counselling when they describe the clinical features of their young child, usually referred because of cognitive or developmental delay, ranging from mild to profound. Sometimes, additional features are present: minor dysmorphic traits, such as downslanting palpebral fissures, or more pronounced
Some children develop more slowly than expected. They may sit later.Walk later.Speak later. Sometimes they even regress after an initial period of apparently normal development, losing skills they had already acquired. Months become years. Physiotherapy.Speech therapy.Neurology.Brain MRI.Blood tests. Yet one question remains unanswered: Why is this happening? Developmental delay is a clinical presentation that may mark the beginning of a long and often complex diagnostic
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 available in medical genetics, there are several situations in which
Where: Gothenburg, Sweden When: 13-16 June 2026 Breda Genetics Booth: #248 Website
When the key variable is not the size of the test Many children referred for genomic testing have already gone through a long diagnostic pathway. Developmental delay.Autism spectrum disorder.Epilepsy.Language regression.Hypotonia.Unexplained neurological findings. By the time genomic sequencing is discussed, multiple evaluations are often already available: MRI scans.Metabolic investigations.Targeted genetic tests.Gene panels. In some cases, → Whole Genome Sequencing (WGS) is proposed immediately, based on the assumption that
When choosing between a gene panel and whole exome sequencing A patient with multiple symptoms.Sometimes overlapping clinical features. Different diagnostic hypotheses are considered.Each one pointing to a different group of genes. Initial genetic tests may have already been performed.Sometimes targeted.Sometimes inconclusive. At this stage, a decision becomes necessary: → should the analysis remain focused on a limited set of genesor move toward a broader approach?
A child with multiple symptoms.Sometimes also malformations. Different systems involved.No single pattern that explains everything. Biochemical tests, imaging, and other investigations have already been performed.Some results are normal.Others suggest possible directions, but a unifying diagnosis remains elusive. At this stage, high-throughput sequencing enters the picture.Most often, pediatricians and neuropsychiatrists recommend → Whole exome sequencing (WES). A further question then arises: how should → whole exome
Fever returns every few weeks. Blood tests are repeated. Antibiotics, steroids or anti-inflammatory treatments may provide temporary improvement. Yet the same question keeps coming back: Why does this continue to happen? In some patients, recurrent fever is caused by inherited autoinflammatory disorders such as Familial Mediterranean Fever (MEFV), TRAPS (TNFRSF1A), Mevalonate Kinase Deficiency (MVK) or CAPS (NLRP3). In others, these conditions are excluded, but the
What is a Variant of Uncertain Significance (VUS) A Variant of Uncertain Significance (VUS) is a genetic variant identified through genetic testing that cannot be clearly classified as either benign (not disease-causing) or pathogenic (disease-causing) based on the available evidence. VUS are commonly reported in tests such as gene panels, Whole Exome Sequencing (WES), or Whole Genome Sequencing (WGS). These tests analyze large portions of
Contents This document outlines key operational challenges encountered in large-scale genomic screening programs, with a focus on real-world implementation constraints. 1. Introduction: Beyond Sequencing In large-scale genomic screening programs, sequencing is often perceived as the central technical challenge. In practice, however, the most critical phase occurs before sequencing even begins. The successful implementation of genomic newborn screening requires the alignment of a complex network
Where: Vienna, Austria When: 3-5 November 2025 Italian Pavillon Website
Where: Milan, Italy When: 24-27 May 2025 Breda Genetics Booth: #290 Website
Where: Berlin, Germany When: 2-4 June 2023 Breda Genetics Booth: #424 Website
Where: Glasgow, Scotland (UK) When: 10-13 June 2023 Breda Genetics Booth: #282 Website
This is the list of genes included in Whole Exome Sequencing (all 20,000 human genes). Some genes or portion of genes may not appear under the name you are looking for due to the different nomenclature used. Some genes may not appear due to exome enrichment kit updates. Looking for testing of a specific gene?We offer targeted testing, gene panels, exome and genome sequencing fro
At the opposite site of DGV (the Database of Genomic Variants, which contains only not pathogenic variations), there is DECIPHER, a useful database to retrieve pathogenic and plausibly pathogenic structural variations in humans. Completely free DECIPHER is an open-source database which contains data about a large amount of submicroscopic structural DNA variations (microdeletions, microduplications and other rearrangements) which have been detected in about 25,000 affected humans.
Where: Vienna (Austria) When: 11-14 June 2022 Breda Genetics Booth: X5 – 344 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. Women with PCOS may fail to regularly release eggs. The
