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,
Rassegna Stampa – Corriere della Sera (Giugno 2021)
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
Panel testing recommended at Breda Genetics for this condition: Bartter syndrome (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, MAGED2, SLC12A1, SLC12A3) Summary Bartter syndrome (whose name derives from the endocrinologist who discovered it in 1962) includes a group of rare kidney diseases that belong to the class of primitive tubulopathies or salt-losing tubulopathies. These diseases are due
Summary Turner syndrome, also known as monosomy of the X chromosome, is a chromosomal disorder due to the total (monosomy) or partial absence of an X chromosome in a female individual. Turner syndrome is characterized by a wide phenotypic variability, which includes very serious clinical pictures that are evident even before birth to very blurred pictures
What is CAVD? Congenital absence of vas deferens (CAVD), also known as CBAVD (when is bilateral), is a genetic condition due to the total or partial non-development of the vas deferens, whose task is to transport sperm. CAVD is one of the main causes of obstructive azoospermia, responsible for numerous cases of male infertility. Obstructive
Panel testing recommended at Breda Genetics for this condition: Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX Summary Pseudoxanthoma elasticum (PXE) is a rare progressive genetic disorder that causes the fragmentation and calcification of elastic fibers due to the accumulation of minerals in the connective tissue. The organs mainly affected are the skin, the eye, the cardiovascular and gastrointestinal systems.
Panel testing recommended at Breda Genetics for this condition: Congenital bile acid synthesis defect (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7) Summary Congenital defects of bile acid synthesis (BASD) are a group of rare metabolic disorders due to a primary defect in the production of bile acids and are part of the class of progressive liver diseases. Bile
Recurrent pregnancy loss (RPL): what is it? Pregnancy loss is the most common adverse event of pregnancy. However, the definition of recurrent pregnancy loss (RPL) is far from unambiguous: the Royal College of Obstetricians and Gynecologists (RCOG) defines RPL as three or more consecutive spontaneous miscarriages (RCOG 2011), while the American Society for Reproductive Medicine
Summary Fetal Alcohol Spectrum Disorders includes numerous conditions due to exposure to alcohol during pregnancy. Alcohol has a teratogenic effect, it is able to cross the placental barrier and reach the fetus, which however lacks the enzymes necessary to metabolize it. Long exposure to alcohol and its metabolites (such as acetaldehyde) causes harmful events to
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