Each sample sent to Microgenomics laboratory must be accompanied by: Analysis request form duly completed by the physician requesting the analysis with the data of the patient, the diagnostic suspicion and clinical description (you can request by sending an email to info@microgenomics.it) Informed consent on the execution of the genetic test signed by the patient For […]
Molecular investigations, Molecular karyotype, Informed consent, Set of forms
Am J Med Genet. 2016 Jan 11 Authors Ronzoni L, Tagliaferri F, Tucci A, Baccarin M, Esposito S, Milani D. Abstract Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, these deletions are considered to be part of a unique microdeletion syndrome associated with intellectual disability and speech impairment, typical dysmorphic features, structural anomalies of the brain, […]
Molecular investigations, CGH-Array, Molecular karyotype, Postnatal diagnosis, Microdeletions
In 2015 Microgenomics Laboratory has scheduled its External Quality Control on the highest European quality standards. Lab staff take part in Scheme CEQA Microarray, the quality program for the CGH-Array analysis promoted by CEQA, the Cytogenetic European Quality Assessment. New this year is that checks were carried out both in postnatal and in prenatal analysis. […]
Molecular investigations, CGH-Array, Molecular karyotype, Quality control, Laboratory, Quality
We invite you to read our latest publications on leading scientific journal. Microgenomics Staff contributed to the draft of these publications. “Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia” British Journal of Haematology, 6 Sep 2015 Read the publication on PubMed! “Refinement of the critical 2p25.3 deletion region: the role of MYT1L […]
Molecular investigations, CGH-Array, Molecular karyotype, Human cytogenetic, Postnatal diagnosis, Laboratory, Publication
We invite you to read an interesting paper recently published on the European Journal of Human Genetics: “9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping“. ABSTRACT: The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of […]
Molecular investigations, CGH-Array, Molecular karyotype, Intellectual disability, Epilepsy
J Neurodev Disord. 2015 Aug 6 Authors Hu J, Liao J, Sathanoori M, Kochmar S, Sebastian J, Yatsenko SA, Surti U. Abstract Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders. However, phenotypes have been […]
Molecular investigations, CGH-Array, Autism, Molecular karyotype, Postnatal diagnosis, Disturbi del comportamento, Neurodevelopmental disorders, Developmental delay
Mol Cytogenet. 2015 Jun 25 Authors Laurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, Laurence Faivre, Marie Eliade, Muriel Payet, Clemence Ragon, Julien Thevenon, Bernard Aral, Sylviane Ragot, Azarnouche Ardalan, Nabila Dhouibi, Candace Bensignor,Christel Thauvin-Robinet, Salima El Chehadeh, and Patrick Callier. Abstract Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS)….read more!
Molecular investigations, CGH-Array, Molecular karyotype, Human cytogenetic, Postnatal diagnosis, Intellectual disability, Obesity, Developmental delay
Microgenomics company pays great attention to its customers, whose opinion is considered an important element in improving the quality of services offered. Our operators are helpful to assist you for reading the results, in case of comments, suggestions or complaints. For any comments please fill out the form below and write to customercare@microgenomics.it, our operators […]
Molecular investigations, Consulting services, Molecular karyotype, Set of forms, Quality
Am J Hum Genet. 2015 Apr 2 Authors Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K,Iwai M, Tanaka T, Nakamura Y, Kimura W, Bole-Feysot C, Vilotte M7, Odent S, Vilotte JL, Munnich A, Regnier A, Chassaing N, De Baere E,Raymond-Letron I, Kaplan J, Calvas P, Roche O, Rozet JM. Abstract Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate […]
Molecular investigations, CGH-Array, Molecular karyotype, Postnatal diagnosis, Congenital microcoria, Publication
Clinical Genet. 2015 Feb 11 Authors Leroy C, Jacquemont ML, Doray B, Lamblin D, Cormier-Daire V, Philippe A, Nusbaum S, Patrat C, Steffann J, Colleaux L, Vekemans M, Romana S, Turleau C,Malan V. Abstract The Xq25 duplications syndrome has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected by array CGH. Similarly […]
Molecular investigations, CGH-Array, Molecular karyotype, Postnatal diagnosis, Intellectual disability, Disturbi del comportamento, Disturbo del linguaggio, Developmental delay
