Breda Genetics panel recommended for this condition: Pan73 – Male infertility (AK7, AR, ARMC2, AURKC, AZF, BRDT, C14ORF39, CATSPER1, CATSPER2, CEP112, CFAP43, CFAP44, CFAP58, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DEFB126, DEFB128, DNAH1, DNAH17, DNAH2, DNAH8, DPY19L2, DZIP1, FANCM, FSHR, FSIP2, HSF2, KLHL10, LHCGR, M1AP, MAATS1, MEIOB, MSH4, MSH5, NANOS1, NR5A1, PICK1, PLCZ1, PLK4, PMFBP1,
It seems we have discovered the reason why some people, being a “short sleeper”, need just 6 hours of sleep, being well awake at 5 o’clock in the morning! So, if we’ll be late in the morning, we’ll be able to say that it’s not our fault, it’s a matter of Genetics instead! So, let’s
NGS, coverage depth, and CNV detection. Next-generation sequencing (NGS) has completely transformed the world of genetic testing, enabling us to sequence human whole exome or whole genome in one single experiment at an unprecedented scale, capacity and convenience. High-throughput sequencing based on short reads has empowered laboratories worldwide. We can now sift a huge amount
What does “coverage” mean? Although the meaning of the term “coverage” may seem very simple, this term is often misused. In the context of Next-Generation Sequencing (NGS), coverage indicates the average number of reads that “cover” a specific target region. Coverage, therefore, always describes a relationship between the number of reads and a reference region
[siteorigin_widget class=”WP_Widget_Media_Video”][/siteorigin_widget] CNV analysis based on NGS data: has the dream come true? The term Copy Number Variations (CNVs) is traditionally referring to intermediate-scale large deletions/duplications of 1 kb to 5 kb in size. However, in practice, when the analysis is based on data from Next Generation Sequencing (NGS), CNV is used every day more
Point mutations: an overview Mutations are inheritable changes in the DNA sequence. Mutations can be of different size and may affect a single gene (genic mutations), one or more chromosomes in their structure (chromosomal aberrations), or one or more chromosomes in number (genomic aneuploidies). Genic mutations involve one or few single nucleotides. So they can
The world of human genetics is wonderfully complex. Next-generation sequencing technologies implemented in genetic testing for rare disorders are impressive tools for searching throughout the whole human genome and singling out mutations causing mendelian diseases. However, although mendelian inheritance may look simple, its mechanisms is usually tangled in a wide range of biological phenomena that
Chromosomes from one parent only: this is uniparental disomy (UPD)! Normally, every human has 22 pairs of chromosomes (called homologous chromosomes or homologs or autosomes) plus one couple of sexual chromosomes (which are two X chromosomes in females and one chromosome X plus one chromosome Y in males). For normal development, we need that, for
Robertsonian translocations: what are they? Robertsonian translocations are chromosomal rearrangements involving two acrocentric chromosomes. Robertsonian translocations are actually the most frequent chromosomal rearrangements in humans, showing an incidence of 1 in 1,000. A difference between Robertsonian translocations and balanced translocations is that people with a Robertsonian translocation have 45 chromosomes instead of 46. The translocation
What’s infertility? Following the Wolrd Health Organization (WHO) definition, infertility is a “a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse.” Whether infertility should be considered a disease should probably be a question of sensitivity and perception of each
Balanced reciprocal translocation: what to do? A balanced reciprocal translocation consists of reciprocal material exchange between two non-homologous chromosomes. Usually, balanced reciprocal translocations can be diagnosed by karyotype analysis (an example of translocation name within a karyotype report could be: 46,XX,t(12:18)(p12;q12.3), which stays for female karyotype with an apparently balanced translocation between chromosomes 12 and
Mechanisms of inheritance: a more complex situation than expected The first studies on inheritance were conducted by Gregor Mendel, the father of Genetics. He discovered that phenotypic traits (e.g. hair or eye color) where defined by the genes (DNA). Each gene has two alleles, one inherited from the mother and one inherited from the father.
How large can a mutation be? Genetic variations in the human genome can differ very much in size. Starting from the smallest mutations possible, the SNV (single nucleotide variation), up to the deletion of an entire chromosome, you can find mutations of every size in the middle! The vast majority of pathogenic mutations are SNVs
Recommended panel testing at Breda Genetics for this condition: Charcot-Marie-Tooth neuropathy (AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, CNTNAP1, COA7, COX6A1, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25,
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
Thumbs up at Breda Genetics! After the first year and a half of activity, the time has come for weighing things up! We strive to find the mutation of your patients, and success comes! Here you are our diagnostic success rates so far: Analysis Our success rate* Market average Any exome-based analysis
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,
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
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
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