Academia

Our Knowledge base, for Patients and Professionals

Explore our Medical and Scientific content to learn more about rare diseases and their testing methods or about current hot topics in Medical Genetics. Exploit our publications to get hints for testing, or even to direct the Genetic Counseling for your patients.  

Disease Cards

Medical Genetics

Tecnohub

Tools

Latest articles

RNA extraction tips

A vulnerable molecule RNA extraction from biological samples is complicated by the vulnerability of the RNA molecule itself and by the ubiquitous presence of ribonuclease enzymes in cells, tissues, and environment which can rapidly degrade RNA (for instance, RNase 7, a member of the RNase A superfamily is secreted by human skin and serves as a potent antipathogen defence). With respect to DNA, the RNA

Read More

GATK

GATK: the Genome Analysis Toolkit The Genome Analysis Toolkit or more simply, GATK, is a software which is widely used to analyze high throughput sequencing data. GATK has been developed by the Data Science and Data Engineering group working at the Broad Institute. This specialized toolkit provides users with a broad selection tools and to focus on variant discovery, genotyping and data quality assurance. The software architecture allows it to handle projects of

Read More

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 multigenic factors have been proposed. Deletion breakpoints The size of

Read More

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 harboring a disease-causing mutation and showing clinical symptoms. Most genetic disorders show a

Read More

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 recessive (CLCN5 gene mutations). Autosomal forms There are also autosomal

Read More

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), but through the means of numbers and letters, separated from

Read More

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, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70) Summary Hyperammonemia is a metabolic

Read More

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 congenital cephalic disorder that stems from damaged or abnormal development

Read More

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 group consisted of the following disorders: fundus albipunctatus, fundus flavimaculatus, basal

Read More

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 of follicles and regulation of steroidogenesis in the ovary and

Read More

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 and balance: ataxia) in combination with variable other symptoms such

Read More

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 neuromuscular transmission, caused by mutations in genes encoding proteins that

Read More

Congenital ichthyosis

SKIN SCALES Recommended panel testing at Breda Genetics for this condition: Congenital ichthyosis (ABCA12, ALOX12B, ALOXE3, ARCI7, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, ST14, SULT2B1, TGM1) Skin-only ichthyosis Congenital ichthyosis is a genetically heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the body. These disorders are limited to skin and are severe in about two thirds of the patients.

Read More

Gliomas

THE BIOMARKERS Glioma is the most frequent tumor of the central nervous system in adults. Mutations in IDH genes (IDH1 and IHD2) can be found in more than 70% of low-grade gliomas and in some instances of glioblastoma. As the most frequent mutation, IDH1 Arg132His (also known as R132H) has been served as a predictive marker of glioma patients. The mutation at codon 132 of the IDH1 gene

Read More

Gastric cancer

HEREDITARY AND SPORADIC: THE GENETICS Hereditary diffuse gastric cancer is an autosomal dominant cancer predisposition syndrome. In addition to gastric cancer, up to 60% of female mutation carriers develop lobular carcinoma of the breast, and some carriers may develop colorectal cancer. Hereditary diffuse gastric cancer (HDGC) and lobular breast cancer (LBC) are caused by heterozygous germline mutation in the E-cadherin gene (CDH1). HDGC is distinct

Read More

Colon cancer

Recommended panel testing at Breda Genetics for this condition: Colon & gastric cancer, with/without polyposis (APC, BMPR1A, CDH1, MLH1, MLH3, MSH2, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, STK11, EPCAM) Summary Genetic mutations have been identified as the cause of inherited cancer risk in some colon cancers; these mutations are estimated to account for only 5-6 % of colorectal cancer cases overall. This group includes hereditary non polyposis colorectal cancer,

Read More

Neuronal ceroid lipofuscinoses

Recommended panel testing at Breda Genetics for this condition: Neuronal ceroid lipofuscinosis (ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1) BATTEN DISEASE Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders traditionally grouped together on the basis of certain shared clinical and pathological features such as accumulation of autofluorescent storage material. They are in fact lysosomal storage diseases. Neuronal

Read More

Amyotrophic lateral sclerosis

Recommended panel testing at Breda Genetics for this condition: Amyotrophic lateral sclerosis (ALS2, ANG, ANXA11, ATXN2, C9orf72, CHCHD10, CHMP2B, CHGB, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, KIF5A, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1. TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, VEGFA) Summary Amyotrophic lateral sclerosis (ALS) is a complex multifactorial neurodegenerative disorder characterized by progressive loss of upper motor neuron (UMN) and

Read More

Alport syndrome

Recommended panel testing at Breda Genetics: Alport syndrome, Epstein syndrome and Fechtner syndrome (COL4A3, COL4A4, COL4A5, MYH9) Summary Alport syndrome is a hereditary progressive glomerulopathy characterized by hematuria and proteinuria. The disease is caused by a gene mutation and affects the production of collagen type IV, which is an abundant component of the glomerular basement membrane. Detailed clinical description The mutations disrupt the glomerular basement membrane, leading to

Read More

Congenital central hypoventilation syndrome

Recommended panel testing at Breda Genetics for this condition: Central hypoventilation syndrome (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2) Summary Congenital central hypoventilation syndrome (CCHS, also known as congenital Ondine curse, from the myth of Ondine, who was cursed to think consciously of breathing even in sleep) is a rare congenital genetic disease caused by mutation in one of different genes: primarily PHOX2B, but also

Read More

Feel free to call us to book your appointment

CONTACT FORM

CONTACT FORM

Enter Email
Confirm Email
Invio

Subscribe to our newsletter to receive news on the world of genetics.

We regularly send specific information for Patients and Professionals with updates and news.
No Spam, that's information.

Newsletter Signup

Newsletter Signup

First
Last