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.

Retinitis pigmentosa

Panel testing recommended at Breda Genetics for this condition: Retinitis pigmentosa, classic (ABCA4, AIPL1, ARL6, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, IDH3B, IMPDH1, IMPG2, IFT172, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF4, […]

Cerebroretinal microangiopathy with calcifications and cysts (Coats plus syndrome)

Panel testing recommended at Breda Genetics for this condition: Cerebroretinal microangiopathy with calcifications and cysts – Coats plus syndrome – and its differential diagnosis (CTC1, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB) If negative: Dyskeratosis congenita and its differential diagnosis (ADC, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, WRAP53) If negative again: Aicardi-Goutières […]

Sequencing the DNA of a single cell

Overview Whole genome sequencing on DNA of a single cell has been reported by several authors. Singe cell genome sequencing is of interest in a number of niche applications, such as the measuring of the genomic diversity in one individual’s gamete genomes, the mutation phase determination, and somatic DNA changes in tumors or after exposure to mutagenic agents. […]

17q21.31 microdeletion / KANSL1 mutations: Koolen-de Vries syndrome

Summary Koolen syndrome or Koolen-de Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, amiable behavior, and highly distinctive facial features. Koolen syndrome is most frequently a chromosomal disorder (when caused by microdeletion 17q21.31, also called monosomy 17q21.31), but can also arise as a monogenic disorder (when caused by a point mutation in the KANSL1 gene). Detailed […]

Sequencing library: what is it?

Summary The preparation of the sequencing library is the very first step in any Next Generation Sequencing analysis.  There are different ways to prepare a sequencing library, depending on the sequencing platform (Life Technologies, Illumina, Roche, Pacific Biosciences) and the planned analysis (whole genome sequencing, whole exome sequencing, targeted DNA sequencing, whole-transcriptome sequencing, targeted RNA sequencing, […]

Mutation interpretation service

The mutation interpretation service is available to professionals only. The service is offered at 69 EUR per mutation, with a turn-around time of 1 working day.

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 […]