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.

1q43q44 and 1q44 microdeletion syndromes

Summary The 1q43q44 and 1q44 microdeletion syndromes have shown to be a somewhat recognizable phenotype with various degrees of developmental delay, short stature, characteristic facial features, microcephaly, and various midline defects, of which abnormalities (agenesis/hypogenesis) of the corpus callosum is the most typical. However, the clinical phenotype of these microdeletions is quite variable. To explain such variability, incomplete penetrance, position effects, and […]

Incomplete penetrance

Typical of autosomal dominant transmission What’s incomplete penetrance? When is it more common? Sometimes a patient harboring a disease-causing genetic mutation remains totally asymptomatic for their whole life. This is due to a genetic phenomenon known as incomplete penetrance. Incomplete penetrance occurs mainly in autosomal dominantly inherited disorders. The definition of penetrance is consistent with the percentage of subjects […]

Hypophosphatemic rickets

Recommended panel testing at Breda Genetics for this condition: Hypophosphatemic rickets (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3) Clinical and genetic variability Hypophosphatemic rickets is a clinically and genetically heterogenous disorder. Autosomal dominant, receissive and X-linked forms are known. X-linked forms There are two forms of X-linked hypophosphatemic rickets: X-linked dominant (PHEX gene mutations) and X-linked […]

The Star Allele Nomenclature

A way to identify pharmacogenomic markers Genetic variants identifiable as pharmacogenomic markers are described by utilizing a special nomenclature, which is not elsewhere used in genetics. It is the so-called star allele nomenclature. In this nomenclature, alleles aren’t identified by their cDNA or genomic position (as it usually happens with all other genetic variants – see HGVS nomenclature), […]

Hyperammonemia disorders

Panel testing recommended at Breda Genetics for this condition: Urea cycle and hyperammonemia disorders (ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, […]

Lissencephaly

Recommended Breda Genetics panel for this condition: Lissencephaly (ARX, CDK5, CEP85L, DCX,  KATNB1, LAMB1, MACF1, MDLS, NDE1, PAFAH1B1, POMT1, POMT2, RELN, TMTC3, TUBA1A). possibly plus Array-CGH Summary Lissencephaly, which means ‘smooth brain’, is a rare disorder that affects the formation of the brain between the 12th and the 24th week of gestation. It is a […]

Fleck retina

Recommended panel testing at Breda Genetics for this condition: Fleck retina, choroideremia and age-related macular degeneration (ABCA4, CFH, CFB, CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, TIMP3, VPS13B) Summary The term fleck retina is used to describe fundus conditions characterized by multiple yellowish-white lesions of various size and configuration, without vascular or optic nerve abnormalities. Originally this […]

Female infertility

GENETIC CAUSES Breda Genetics panel recommended for this condition (EXOME PANEL): Female infertility (AR, BMP15, BRCA1, CYP21A2, DHEAST, DIAPH2, FIGLA, FMR1, FOXL2, FSHR, HFM1, LHB, LHCGR, MCMDC1, MCM8, NOBOX, NR5A1, POF1B, PSMC3IP, SHBG, SRD5A1, SRD5A2, STAG3, TUBB8) plus Karyotyping/FISH Ovarian dysgenesis Follicle-stimulating hormone (FSH) and its receptor (FSHR) play a major role in the development […]

Episodic ataxia

LOSS OF MOTOR CONTROL Breda Genetics panel testing recommended for this condition (EXOME PANEL): Episodic ataxias and their differential diagnosis (ARG1, ASL, ASS1, BCKDHA, BCKDH, CACNA1A, CACNB4, CPS1, DBT, DLD, IVD, KCNA1, KCNQ2, OTC, PDHA1, PNKD, SLC6A19, SNC2A, SLC1A3) Clinical variability Episodic ataxia (EA) is an inherited disease that leads to occasional loss of motor control (i.e. poor coordination […]

Congenital myasthenic syndrome

MUSCLE INVOLVEMENT Recommended panel testing at Breda Genetics for this condition: Congenital myasthenic syndrome (AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2) Clinical description Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that result from impaired […]