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.

Multi-allelic CNVs (mCNVs)

mCNVs: YET TO BE DISCOVERED Several hundreds of human genomic traits (and maybe even more) show CNVs (Copy Number Variations) within a very large range of alleles. Such CNVs are also called multi-allelic CNVs (mCNVs). Non-Allelic Homologous Recombination (NAHR) mCNVs can evolve with mechanism of non-allelic homologous recombination (NAHR) at a much higher mutational rate than SNPs […]

CNVs: a universe of variations

Defning CNVs Genetic variants of the human genome can differ very much in size. From the smallest ones (variants affecting on single nucleotide: Single Nucleotide Variations – SNVs) to the largest ones (variants affecting the shape and number of an entire chromosome), everything can stay in the middle. Variants comprised between 1,000 bp (1Kb) and […]

Tuberous sclerosis: catching mosaicism and intronic mutations

Recommended testing at Breda Genetics for this condition (also to test for mosaicism): Tuberous sclerosis (TSC1, TSC2) If negative: MLPA analysis (TSC1, TSC2 gene). If negative: Exonic ultra-deep sequencing (600x) and SNaPshot analysis Summary Tuberous Sclerosis Complex (TSC), also called Bourneville syndrome, is a multisystem disorder with variable expressivity characterized by hamartomas in multiple organ […]

How to interpret the results of a genetic test: general flow-chart and common pitfalls

Unlike most other analytics in medicine, where automation is king even in the interpretation of the results, genetic testing still remains complex under all aspects. In particular for what concerns the interpretation of the results, despite the solid efforts made in developing artificial intelligence, the human factor is still pivotal and a good final outcome […]

p.Gly2019Ser: the common LRRK2 mutation

LRRK2 p.Gly2019Ser Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of inherited Parkinson’s disease (PD), and also a risk factor for idiopathic PD. The LRRK2 missense mutation p.Gly2019Ser, which causes the substitution of a glycine with a serine at codon 2019 of the amino acidic chain, is the most common LRRK2 mutation. The penetrance of this mutation is […]

Newly identified genes in Rett-like patients

Rett and Rett-like disorders Breda Genetics panel recommended for this conditions: Rett and Rett-like syndrome disorders (MECP2, FOXG1, CDKL5, MEF2C, TCF4, GABRD, WDR45, SMC1A) Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system. Being most frequently transmitted as an X-linked dominant disorder caused by MECP2 mutations (90% of cases), RTT primarily affects […]

MMP21 mutations causing autosomal recessively inherited heterotaxy

Causing a developmental disorder By whole-exome and whole-genome sequencing evidence has been found that MMP21 gene mutations may cause an autosomal recessively inherited form of heterotaxy. Heterotaxy (or heterotaxia) is an abnormal positioning of the thoracic and/or abdominal organs reversing left/right with respect to normal. The incidence is approximately 1/15,000. Mutations in several other genes and all kinds of inheritance […]

Mental Retardation 5 (MRD5 – SYNGAP1 gene mutations)

Recommended testing for this condition at Breda Genetics: Single gene testing based on exome sequencing (SYNGAP1 gene). If negative: upgrade to full exome data analysis. Summary SYNGAP1 gene mutations have been associated with autism or autism spectrum disorders, nonsyndromic intellectual disability, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. The condition caused […]

Incidental findings: current opinions of professionals and patients

What are incidental findings? The more exome and genome sequencing spread, the more the ascertainment and return of incidental findings becomes of crucial importance and ethical relevance. Incidental findings which are sometimes referred to as “secondary” findings or more common among researchers “incidentalome”, are defined as the counterpoint to the primarily sought after diagnostic results or […]

Familial dyskinesia with facial myokymia (ADCY5 gene)

A hyperkinetic disorder Familial dyskinesia with facial myokymia (also known as ADCY5-related dyskinesia) is an autosomal dominant mixed hyperkinetic disorder characterized by paroxysmal choreiform, myoclonic, and/or dystonic movements of the limbs and neck with frequent facial involvement. Onset is typically from infancy to late adolescence. The severity is variable, sometimes resulting in difficulty walking and […]