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.

Stargardt disease

Summary Recommended panel testing at Breda Genetics for this condition: Stargardt disease (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, PROM1, PRPH2, RP1L1, RPGR, TIMP3, RIMS1) Stargardt disease is the most common form of inherited juvenile macular degeneration. Decreased central vision with decreased color perception is a hallmark of Stargardt disease, whereas side vision is usually preserved. […]

Exploring “Omics”: a review of Genomics and Metabolomics

Overview: what is “Omics”? The term “Omics” is an English language Neologism which is utilized to informally refer to the totality of any biological field of study. Using the suffix “–ome”, new areas of study have been demarcated such as genome, proteome or metabolome, while new ones are constantly being added on a regular basis […]

Congenital cataract, isolated

Summary Recommended panel testing at Breda Genetics for this condition: Cataract, isolated, classic (AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1 , CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, EPHA2, FYCO1, GCNT2, GJA3, GJA8 , HSF4, LEMD2, LIM2, LSS , MAF, MIP, NHS , PITX3 , SIPA1L3, TDRD7, UNC45B, VIM, WFS1) or Cataract, isolated, extended (AGK, […]

Driver mutations

Mutations in cancer development: drivers and passengers Those genetic mutations that drive the development of cancer are defined as driver mutations. Driver mutations allow cancer to grow and invade the human body. Several genetic mutations are found in cancer cells, however just a few can be classified as drivers. All other mutations, which play just a secondary role […]

Arthrogryposis, distal, type 9 (DA9)

SummaryDistal arthrogryposis type 9 (DA9 – also known as congenital contractural arachnodactyly or Beals / Beals-Hecht syndrome) is caused by heterozygous mutation in the fibrillin-2 gene (FBN2), which is crucial for microfibril structure. The transmission is autosomal dominant. Due to its genetic etiology, it show some clinical overlap with Marfan syndrome, which is caused by […]

Arthrogryposis, distal, type 8 (DA8)

Summary Distal arthrogryposis type 8 (DA8 – also known as multiple pterygium syndrome) is caused by heterozygous mutation in the MYH3 gene. The transmissions is autosomal dominant. Mutations in the same gene can also cause DA2A and DA2B. Detailed clinical features Wide variability in severity can be observed among affected subjects. Ptosis and severe scoliosis […]

Arthrogryposis, distal, type 7 (DA7)

Summary Distal arthrogryposis type 7 (DA7), often referred to as trismus-pseudocamptodactyly syndrome or Hecht syndrome, is caused by mutation in the MYH8 gene. Heredity is autosomal dominant. Large multigenerational families with several affected members have been reported. Detailed clinical description Expressivity is highly variable, although penetrance tends to be complete. Inability to open the mouth […]

Arthrogryposis, distal, type 6 (DA6)

Summary Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness. Detailed clinical description Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness. The syndrome has been originally described as a arthrogryposis-like hand anomaly with sensorineural deafness. Both features of the syndrome can vary widely in […]

Arthrogryposis, distal, type 5 (DA5)

 Summary Distal arthrogryposis type 5 (DA5, also known as oculomelic amyoplasia) is caused by heterozygous mutation in the PIEZO2 gene, of which mutations also cause the overlapping syndromes DA3 and Marden-Walker syndrome. Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia*, and/or strabismus, in […]

Arthrogryposis, distal, type 4 (DA4)

Summary Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis. The transmission is autosomal dominant and the condition has been observed across multiple generations in families. Mental retardation and syndactyly can be seen in some cases. Detailed clinical description In DA4 the scoliosis can be mild to severe, with the possibility of fusion […]