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.

Current strategies in BRCA1/BRCA2 molecular testing

Summary We summarize here strategies to adopt when testing individuals for BRCA1 and BRCA2 mutations based on positive or negative family history. Any comments or personal experiences are welcome in the comments section. For an introduction on the BRCA1 and BRCA2 genes, you can read our BRCA1 and BRCA2 deep dive page here or our clinical card on hereditary breast and ovarian […]

BRCA1 and BRCA2: the mutational spectrum

Thousands of sequence variants have been so far identified in the BRCA1 and BRCA2 genes through the analysis of breast cancer families and population-based case studies. A total of 1,639 different mutations and polymorphisms are reported in the BRCA1 gene by the Breast Cancer Information Core (BIC) 2010 database, whereas the same database reports 1,853 unique mutations and […]

BRCA1, BRCA2 and their products

BRCA1, BRCA2 and their products Both BRCA1 and BRCA2 are involved in maintenance of genome stability, as they are crucial for the process of DNA repair by homologous recombination (HRR), which is considered to be a conservative form of DNA repair, largely involved in repairing DNA lesions that stall DNA replication forks and/or cause DNA […]

Current methods for BRCA1/BRCA2 molecular analysis

Current Methods for BRCA1/BRCA2 molecular analysis BRCA testing is commonly performed by direct Sanger sequencing. This method is considered the ‘gold standard’ of DNA sequencing. It is technologically reliable, widely available, and has a relatively simple workflow. The drawbacks of Sanger sequencing are: • limited throughput • lower cost-effectiveness compared to next-generation sequencing (NGS) • […]

BRCA1/BRCA2 related cancers

Breast cancer Among women breast cancer accounts for 15% of cancer-related deaths, and 10% with breast cancer has a family history of the disease. Compared with women without a family history, women with one first-degree relative with premenopausal breast cancer are at 3.3-fold greater risk, and women with two first-degree relatives with breast cancer are […]

BRCA1 and BRCA2: deep dive!

Germline mutations in the BRCA1 and BRCA2 genes result in a high increased lifetime risk of developing breast and ovarian cancer and, to a lesser extent, other types of cancer such as prostate cancer, pancreatic cancer and melanoma. BRCA1 and BRCA2 related susceptibility to breast and ovarian cancer (also known as hereditary cancer and ovarian syndrome) is inherited in an […]

10 FAQs on hereditary hearing loss

Based on our genetic testing and genetic counseling experience, we’d like to answer some of the most frequently asked questions on hereditary hearing loss. For the complete disease card on nonsyndromic deafness and hearing loss you can click here. Neither my partner nor me are affected by hearing loss. None of our relatives is affected either.  Are we still at […]

SMOC1 Database – Homepage

Please, take a look to the readnote before proceeding. SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 Pathological Phenotypes: 1 Microphthalmia with limb anomalies OMIM: #206920 Microphthalmia with limb anomalies is caused by homozygous mutations in the SMOC1 gene. Distinctive features are unilateral or bilateral anophthalmia with limb anomalies. Intellectual disabilities is also a common feature. The most […]

Deafness and hereditary hearing loss, nonsyndromic

Summary Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems), or nonsyndromic (no other visible abnormalities of the external ear or any related medical problem); and prelingual (before language develops) or […]

Transposons

Mobile elements Transposons are mobile DNA elements which inserted themselves into the human genome during the evolution. So it is common to refer to them as transposon insertions. Transposons arise from RNA-based or DNA-based mechanisms and are therefore categorized in two classes: retrotransposons and DNA transposons. Retrotransposons Retrotransposons are fragments of cDNA which are transcribed from RNA […]