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Centro de Biología Molecular A Genetic Reference Laboratory for reference laboratories GENETAQ is a company specialized in Molecular Diagnostics, carrying out genetics and other special testing for clinical laboratories and hospitals. GENETAQ is one of the most advanced laboratories in molecular diagnostics in Spain. Since 1998, the researching department has been improving constantly, carrying out an important investment in technology resources in order to satisfy clients’ needs and to maintain the highest quality of genetic testing services. GENETAQ is a benchmark as a Genetic Reference Center for molecular diagnostics in our country, highlighting its specialization in Rare Genetic Diseases. GENETAQ is also an accredited laboratory for human forensics. GENETICS RARE DISEASES GENETAQ provides support for clinic diagnostics: - Interpretation and assessment of results - Genetic advise for professionals GENETICS RARE DISEASES GENETAQ is specialized in rare genetic diseases such as: - Metabolic diseases (e.g. Glycogenosis) - Cardiac diseases (e.g. Familial Hypertrophic Cardiomyopathy) - Endocrine diseases (e.g. Androgen Insensitivity Syndrome) - Development diseases New tests are developed on clinical specialist demand. MITOCHONDRIAL DISEASES Leber hereditary optic neuropathy Mitochondrial Diabetes Encephalopathy, Mitochondrial MELAS MERRF syndrome Leighs syndrome Madelung syndrome Narp syndrome INHERITED CANCER SYNDROMES and MOLECULAR ONCOLOGY Full gene sequencing and deletion/duplication analysis of genes implicated in cancer. Some of the genes studied in GENETAQ are: BRCA 1 and 2 K-ras APC p53 MLH1, MSH2, MSH6 p16 CDH1 PTEN MEN-1 RB1 RET C-MYC HEMATOLOGICAL MALIGNANCIES GENETAQ carries out testing for: Chronic Myeloproliferative Disorders Chronic Lymphoproliferative Disorders and Non-Hodgkin’s Lymphomas Myelomas Acute Myeloblastic Leukemia IMMUNOLOGICAL DISEASES Molecular genetic studies of HLA alelles HLA-B*5701 HLA-DQ2 HLA-DQ8 HLA-DQ HLA-DR4 HLA-DR1 HLA-B27 CHROMOSOMOPATHIES Chromosomopathies are studied by QF-PCR Sexual chromosome syndromes (XY) Down Syndrome (chromosome 21) Edwards Syndrome (chromosome 18) Patau Syndrome (chromosome 13) 13 18 Y X 21 GENOMIC PROFILES GENETAQ has also developed three genomic profiles to assess health risks and personalize health interventions. These profiles are very useful in preventive anti-aging and sport medicine and for preventing obesity. Antiaging NutriChip Sport Profile MOLECULAR MICROBIOLOGY Microbiology testing with clinical applications Testing for most viruses, bacterial and parasites are available. Human Papillomavirus (HPV) Detection and Typification is also available FORENSICS GENETAQ is also an accredited laboratory for human forensics, offering paternity and maternity testing, genetic profiling (mainly for adopted children), and others forensics testing following the official guideline of the GEP-ISFH group and taking part in exhaustive quality controls so that the forensics testing had legal validity.