Service portfolio

  • Sequencing panels. NGS

    Thanks to major developments in next generation sequencing (NGS) equipment, it has been possible to develop tests that include a single gene, panels with large groups of genes, and even the exome, increasing diagnostic capacity, with shorter times and lower prices.

  • Exome

    The human genome contains more than 20,000 genes and about 7,000 are known to be related to different conditions.

    Each gene is made up of exons and introns. Exons are the coding regions that give rise to proteins, while introns are non-coding regions.

  • Molecular oncology and liquid biopsy

    Cancer is a genetic disease. It occurs when mutations originate in the DNA and many genes can be affected. The main types of genes involved in this disease are suppressor genes, proto-oncogenes, and repair genes. Around 10% of cancers are hereditary. In these cases, the mutations occur in the germ cells and there is a 50% probability they will be transmitted to offspring.

  • Neuropathies

    Hereditary neuropathies are a group of inherited disorders that affect the peripheral nervous system. They are divided into four main subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary motor neuropathy, and hereditary sensory and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor and sensory neuropathies.

  • Myopathies

    Congenital myopathies are a heterogeneous group of diseases that share clinical features of early onset and specific muscle histopathological alterations. Genetic studies allows the causative mutation to be determined in most cases. There is phenotypic and genotypic heterogeneity, with one genotype being expressed in more than one clinicopathological form and one phenotype being caused by different genetic mutations.

  • Intellectual disability

    It is estimated that 25-35% of all cases of ID may originate from genetics. Establishing the cause of ID is essential for prognosis, patient management, and the genetic counselling process. Today it is still not possible to establish the aetiology of intellectual disability in more than 50% of cases, which is approximately 30% of cases of genetic origin and 15% of those of environmental origin.

  • Developmental delays

    One of the main causes of developmental delays is due to genetic alterations. Early intervention is key to help minimise or overcome developmental delays in children. There are many genes that are involved in one way or another in processes involved in development. It is therefore necessary to approach each case with a diagnostic approach aimed at identifying the aetiology of each problem.

  • Cardiopathies

    Congenital heart disease (CHD) is the most common congenital malformation in humans. Approximately 1 in every 100 children has a CHD at birth.

    6% are due to a chromosomal abnormality, 5-10% are due to the alteration of a single gene and can be either syndromic or non-syndromic.El 6% se debe a alguna anomalía cromosómica, el 5-10% se deben a la alteración de un solo gen pudiendo ser sindrómicas o no sindrómicas.

  • Epilepsy

    40% of epilepsy cases are of genetic origin. At present, existing treatments are directed at the symptoms, without addressing the biological mechanisms that cause them. This is partly because genetic approaches to the study of epilepsy have not been effective enough to deal with its complexity.

  • Autism spectrum disorders. ASD

    Despite the significant hereditary nature of autism spectrum disorders (ASD), their extreme genetic heterogeneity has posed a challenge in terms of the discovery of the genes involved. The recommendation when establishing a diagnostic approach in cases of autism is to perform a full-coverage array CGH as the first-line diagnostic test.