A new genetic analysis device changes the algorithm of diagnosis of idiopathic mental retardation.

-The new device applies to patients with mental retardation of moderate to severe in children over 3 years, or psychomotor retardation in children under that age ”

-the Neuroarray is based on a genomic hybridization test comparative (aCGH), uses a scanner for high-resolution (with a resolving power of up to 1 million probes) and own software for the interpretation of the results of the analysis

-El Neuroarray has already begun to be used, thus pioneering in Spanish hospitals, both public and private network

Bilbao, 2011-December Spanish company specializing in human genetic analysis, Genetadi Biotech, has just developed an innovative genetic testknown as Neuroarray, which allow pediatricians to have a new diagnostic tool capable of identifying hundreds of syndromes and rare diseases based on genomic and chromosomal alterations associated with the CNS, including cases of idiopathic (of unknown cause) mental retardation and paintings of the autistic spectrum.

As explained by Dr. José Luis Castrillo, scientific co-director Genetadi biotech and holder of the Consejo Superior de Investigaciones Científicas (CSIC), the new device improves genetic of idiopathic mental retardation diagnosis, allowing to identify the cause of the illness of the patient when all previous diagnostic methods have proved negative. This means that about 33% of children that were not previously correctly diagnosed they can count on precise identification of his illness, thereby making the application, where appropriate, adequate treatment ”.

The new device applies to patients with mental retardation of moderate to severe in children older than 3 years, with patients under that age with a delay in psychomotor development, with or without alterations of growth (hyper or symmetric hipocrecimiento), macro or microcephaly, facial dismorfias not family, and birth defects in other bodies outside the central nervous system ”.

This new technology is based on several innovative aspects: the first of these is the realization of a new molecular karyotyping, technically known as comparative genomic hybridization using microarrays, (aCGH as its acronym in English), and that, for example, multiplied by ten the diagnostic possibilities in cases of idiopathic mental retardation, well above other existing techniques of molecular karyotyping, such as the BACs on bead. In addition, uses a high-resolution (a million probes) and scanner an own software for the interpretation of the results of the analysis ”.

Change in the diagnostic process

Currently, based on the diagnosis by a specialist of the existence of a moderate or severe mental retardation, is a molecular study of fragile X syndrome and expanded metabolic screening. So far, in cases in which these tests were negative (85%), conventional as a karyotype or a MLPA genetic testing subtelomérico ”, which also solved the problem. In the end, a study of aCGH microarrays is the technique most successful diagnostic presents ”.

Alternatively, and in order to study the more direct patient, precise, and at a cost lower overall, has been proposed by recent scientific studies, that: the aCGH microarray (Neuroarray) can be used as a first tool for genetic analysis in children with idiopathic mental retardation. In countries such as Holland, Germany and United States the scientific community has already made this change in the process of diagnosis in an official manner ”.

The analysis requires a blood sample from the patient (or, where appropriate, samples of saliva), and their parents. Following the signing of informed consent, Gets the DNA of the patient that is analyzed by the Neuroarray. Once the test, the genetic results are integrated along with family history and the clinical picture of the patient, by issuing a final genetic report specialist ”.

All this work, since the received samples of saliva or blood of the child, takes place in 5 days, so the neuropediatra can have results in less than a week after your application ”.

The work of Genetadi includes analysis of family history and genetic advice covering possibilities of treatment, psychological support and stimulation neuromotora ”. In addition, the family counselling extends the genetic study to other members, allowing the planning of new lineages and eventually establishing the specific ratios of recurrence ”.

The new genetic test already has a clinical validation contrasted with its use in pilot projects in various Spanish hospitals, both the public network and private, in a multi-faceted programme in several autonomous communities ”.