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

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

Brugada syndrome

Recommended panel testing at Breda Genetics for this condition: Brugada syndrome (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A) Summary Ion channelopathies are diseases caused by dysfunctional ion channels that may lead to sudden death. These diseases can be either acquired or inherited. The main phenotypes of Brugada syndrome in patients carrying these heritable arrhythmia syndromes are congenital long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia,

Read More

Arthrogryposis

Genetically heterogenous Arthrogryposis Multiplex Congenita (AMC) is a clinically and genetically heterogeneous condition characterized by multiple joint contractures at birth. The condition is generally defined by the presence of congenital joint contractures in two or more body areas, usually associated with hypoplastic muscles. Sometimes the term arthrogryposis multiplex is used to identify a clinical sign rather than a specific disease. When referring to arthrogryposis multiplex as disease, a

Read More

Haploinsufficiency

Most human apparatuses operate under conditions of functional redundancy. Many biological systems have a functional reserve to offer a better chance of survival in case of illness or accident. In fact, men have two lungs, two kidneys, two eyes (but can survive even with only one), a liver function which can be satisfactorily maintained even after the removal of 75% of the liver parenchyma, a

Read More

NGS for dummies

Few simple words to explain NGS After years of Sanger sequencing being adopted as the gold standard in molecular diagnostics, Next Generation Sequencing (NGS) is about to finally an completely take over. NGS is also known as high-throughput sequencing (high yield sequencing) as it allows to sequence many fragments in parallel (which is impossible by traditional Sanger sequencing). There are several NGS systems, which have been developed by different

Read More

Coffin-Siris syndrome

Recommended panel testing at Breda Genetics for this condition: Coffin-Siris syndrome (ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1, SOX11) The fifth digit syndrome Coffin-Siris syndrome (also known as fifth digit syndrome) is a very rare genetic syndrome. Even though the condition is highly variable, the main hallmarks are abnormalities of the fifth finger, developmental disability of variable grade, hirsutism and coarse facial features. Clinical features

Read More

Mitochondrial complex IV deficiency (cytochrome c oxidase deficiency)

Recommended panel testing at Breda Genetics for this condition: Mitochondrial complex IV deficiency – cytochrome c oxidase deficiency (APOPT1, C12ORF62, COA3, COA5, COA6, COX10, COX14, COX15, COX20, COX6B1, FARS2, FASTKD2, LRPPRC, MTCO1, MTCO2, MTCO3, MTTL1, MTTS1, PET100, POLG, SCO1, SCO2, SURF1, TACO1) Summary Mitochondrial complex IV deficiency (also known as cytochrome c oxidase – COX – deficiency or simply complex IV deficiency) is a very rare

Read More

Ataxias with oculomotor apraxias (AOAs)

Recommended panel testing at Breda Genetics for this condition: Ataxia-oculomotor apraxia (APTX, PIK3R5, SETX, PNKP) INVOLVING EYE MOVEMENTS Idiopatic oculomotor apraxia Oculomotor apraxia (OMA)  is the absence of,  or a defect in,  the control of voluntary purposeful eye movement.  Children with this condition have difficulty moving their eyes horizontally. Because of this, most patients  with OMA have to turn their head in order to follow

Read More

Potocki-Lupski syndrome

OVEREXPRESSION OF RAI1 Recommended panel testing at Breda Genetics for this condition: MLPA analysis – RAI1 gene (TAT: 15 days); aCGH (TAT: 6 weeks); EXOME D (TAT: 4 weeks). Reciprocal to Smith-Magenis syndrome Potocki-Lupski syndrome (PTLS – OMIM 610883), also known as chromosome 17p11.2 duplication syndrome, is a developmental disorder characterized by hypotonia, failure to thrive, pervasive developmental disorders with mild-to-severe mental retardation with possible language and cognitive

Read More

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