Molecular karyotype

Analysis request form

17 Feb , 2016 Download

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 […]

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Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

8 Feb , 2016 News from the world

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

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, […]

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Microgenomics and European quality control!

31 Jan , 2016 News from Microgenomics

Microgenomics and European quality control!

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. […]

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Our new publication!

10 Nov , 2015 News from Microgenomics

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 […]

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New publication!

6 Oct , 2015 News from Microgenomics

New 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 […]

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CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

3 Sep , 2015 News from the world

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

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 […]

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6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

30 Jun , 2015 News from the world

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

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!

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Suggestion and complains form

3 Jun , 2015 Download

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 […]

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Submicroscopic deletions at 13q32.1 cause congenital microcoria

4 May , 2015 News from the world

Submicroscopic deletions at 13q32.1 cause congenital microcoria

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 […]

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Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

2 Mar , 2015 News from the world

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

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 […]

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