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.

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 […]

Arthrogryposis, distal, type 3 (DA3)

Summary DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate. The syndrome is caused by mutationsin the PIEZO2 gene, which also causes DA5 (oculomelic amyoplasia) and Marden-Walker syndrome (MWKS). DA5 and MWKS are very similar to DA3 and are distinguished by ocular abnormalities and mental retardation, respectively (it […]

Arthrogryposis, distal, type 2B (DA2B)

Summary DA2B is thought to be the most common of the distal arthrogryposis disorders. Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. If distal arthrogryposis type 1 (DA1) is not associated with other abnormalities, other forms of DA such […]

Arthrogryposis, distal, type 2A (DA2A)

Summary Arthrogryposis, distal, type 2A (DA2A) is also known as Freeman-Sheldon syndrome (FSS) or whistling face syndrome and is caused by heterozygous mutation in the MYH3 gene. Mutations in this gene can also cause distal arthrogryposis type 2B (also known as Sheldon-Hall syndrome, a genetically heterogeneous subtype of distal arthrogryposis caused also by mutations in the […]

Arthrogryposis multiplex congenita, distal, type 1B (DA1B)

 Clinical summary Distal arthrogryposis type 1 (DA1) is characterized by multiple contractures of hands and feets (camptodactyly and clubfoot), no visceral organ involvement and normal intelligence. Large multigenerational families have been reported. DA1 type B (DA1B) is caused by mutation in the in the MYBPC1 gene (heterozygous mutations in this gene also cause DA type 2). The […]