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.

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 […]

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.