HIGH THROUGHPUT SEQUENCING IN GENETIC DISORDERS

By sequencing all human genes at once (whole exome and whole genome sequencing), genetic testing can be done in the blink of an eye. Based on the clinical information, we can look immediately at the most appropriate gene or panel or go straight to the interpretation of all data. For every clinical case, we have the right solution.

Breda Genetics deploys an articulated portfolio of tests, which comprises four different whole exome sequencing solutions (MENDEL FULL, EXOME 15MB, EXOME 60MB, EXOME 90MB), whole genome sequencing 30x (GENOME FULL), a list of hundreds of fully customizable exome or genome-based multigene panels (EXOME PANEL, GENOME PANEL), and a complete range of other forefront solutions and ancillary services, from exonic/multiexonic algorithmic CNV analysis based on NGS data (EXOME CNV, GENOME CNV), to family segregation studies, MLPA/qPCR and repeat expansion testing (SANGER CARRIER, SANGER GENE, MLPA/qPCR GENE, REPEAT PLUS).

The landscape of clinical genetics worldwide is often marked by widespread difficulty in accessing genetic counselling and genetic testing, either for geographical reasons, limited budgets or absence of equipped facilities. We make a point of giving access to medical genetics services to as many people as possible, offering acceptable turnaround times and fees. If you are unsure on whether you are in need of genetic testing, please request your genetic counseling now.

Amyloidosis

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) 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 with […]

Thalassemia

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, from […]

Galactosemia

Panel testing recommended at Breda Genetics for this condition: Pan251 Galactosemia (GALE, GALK1, GALM, GALT) 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 autosomal […]

Bartter syndrome

Panel testing recommended at Breda Genetics for this condition: Bartter syndrome (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, MAGED2, SLC12A1, SLC12A3) 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 to […]

Turner syndrome (chromosome X monosomy)

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 in […]

CAVD (Congenital Absence of the Vas Deferens): is it possible to become a father?

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 azoospermia is the […]

VUS in WES

When sequencing the entire human genome (whole genome sequencing), the average number of variants detected in one person is about 4 million. From whole exome sequencing, the number of genetic variants detected is very high too. So, how do we guess the clinical significance of all those variants? The vast majority of genetic variants are […]

Pseudoxanthoma Elasticum

Panel testing recommended at Breda Genetics for this condition: Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX 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. The […]

Congenital defects of bile acid synthesis

Panel testing recommended at Breda Genetics for this condition: Congenital bile acid synthesis defect (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7) 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 acids […]

Recurrent pregnancy loss (RPL): definitions and etiology

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 […]