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
Does non-coding RNA exist? What do they need? How many types are known? lncRNA is an acronym of long non-coding RNA. lncRNAs, as well as miRNAs, siRNA, aRNA, piwiRNA and other types of RNA, belong to the group on non-coding RNAs (ncRNA). Although their action mechanisms remain poorly understood, their pivotal role in several biological
Panel testing recommended at Breda Genetics for this condition: Pan29 – Polycystic kidney disease and differential diagnosis, extended (DNAJB11, DZIP1L, GANAB, HNF1B, LRP5, MUC1, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC61A1, SEC63, TSC1, TSC2, UMOD, VHL) Summary Polycystic kidney disease (PKD) is a rare genetic disorder characterized by the development of cysts in the kidneys. Cysts are fluid-filled
Panel testing recommended at Breda Genetics for this condition: Sudden death (ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CASQ2, CAV3, CSRP3, DES, DPP6, DSC2, DSG2, DSP, DTNA, FBN1, FGF12, GJA5, GPD1L, CN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, LRP6, MYBPC3, MYH6, MYH7, MYL2, MYL3,
Panel testing recommended at Breda Genetics for this condition: Maple syrup urine disease (BCKDHA, BCKDHB, DBT, DLD) Summary Maple syrup urine disease (MSUD) is an autosomal recessive rare genetic disease caused by a defect in the branched-chain alpha-keto acid dehydrogenase enzyme (BCKAD), which represents the key step in the catabolism of branched-chain amino acids. The classic form is
Panel testing recommended at Breda Genetics for this condition: Congenital dyskeratosis and differential diagnosis (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, WRAP53) Summary Dyskeratosis congenita (DC), also called Zinsser-Cole-Engman syndrome, is a multisystem disorder due to telomere loss. All affected individuals have a telomeric shortening increased in relation to age. The disease
Factor V of Leiden and thrombophilia: how many questions! What is Factor V Leiden? If I have the Factor V Leiden, have I a higher risk for deep veins thrombosis? Am I at risk of miscarriage with factor V Leiden? The factor V Leiden has been extensively studied in recent years. In the face of
Panel testing recommended at Breda Genetics for this condition: Parkinsons disease (ADH1C, ATP13A2, ATP1A3, ATP6AP2, ARSD, CHCHD2, CSF1R, DCTN1, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG, PRKRA, SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, UCHL1, VPS13C, VPS35) Summary Parkinson disease (PD) is the second most common
If you are not a Geneticist and you have to approach the world of genetic testing, you may have some difficulty in choosing the best test for your patient. In recent years, thanks to the advancement of Next-Generation Sequencing (NGS) technologies, the lowering of their costs and the increase in knowledge about genetic diseases, the
Panel testing recommended at Breda Genetics for this condition: Pan28 – Primary ciliary dyskinesia (ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP221, CFAP298, CFAP300, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, LRRC6, LRRC56, MCIDAS, NEK10, NME5, NME8, OFD1, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1,
Whole exome sequencing (WES) is increasingly used in clinical practice, especially in pediatrics, to identify the cause in patients with a suspicion of genetic disease or for large studies whose purpose is to identify new disease genes. Thanks to technological advancement, lowering costs and reduction of the time required for diagnosis, massive sequencing has revolutionized
Anyone, supporter or not, was shocked by what happened during the Denmark-Finland match of the UEFA EURO 2020. A player from the Danish national team, Christian Eriksen, collapsed due to cardiac arrest. Timely intervention was provided first of all by his teammates and subsequently by the specialized medical team, who, thanks also to the help
Panel testing recommended at Breda Genetics for this condition: Pan269 Hereditary Amyloidosis (APOA1, APP, B2M, CST3, GPNMB, GSN, FGA, IL31RA, ITM2B, LYZ, OSMR, PRNP, TACSTD2, TTR) Summary Amyloidoses are a group of rare disorders caused by extracellular deposition of insoluble fibers made of misfolded proteins, which take the name of “amyloid”. These deposits damage tissues and interfere
Summary Thalassemia refers to a group of hereditary quantitative hemoglobinopathies, blood disorders that derive from a quantitative reduction of the synthesis of the globin chains of hemoglobin. On the basis of the genetic defect, they are divided into alpha and beta-thalassemia and are both inherited in an autosomal recessive manner. Thalassemias have wide phenotypic variability,
Panel testing recommended at Breda Genetics for this condition: Pan251 Galactosemia (GALE, GALK1, GALM, GALT) Summary Galactosemia includes a group of rare metabolic disorders due to the body’s inability to metabolize galactose, a carbohydrate contained in milk and its derivatives, which consequently accumulates in the blood. It is a congenital genetic defect, transmitted in an
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