A Genetic Reference Laboratory for reference laboratories Centro de Biología Molecular

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 - Interpretation and assessment of results - Genetic advise for professionals GENETAQ provides support for clinic diagnostics:

GENETICS RARE DISEASES GENETAQ is specialized in rare genetic diseases such as: New tests are developed on clinical specialist demand. - Metabolic diseases (e.g. Glycogenosis) - Cardiac diseases (e.g. Familial Hypertrophic Cardiomyopathy) - Endocrine diseases (e.g. Androgen Insensitivity Syndrome) - Development diseases

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. BRCA 1 and 2 APC MLH1, MSH2, MSH6 CDH1 MEN-1 RETC-MYC K-ras p53 p16 PTEN RB1 Some of the genes studied in GENETAQ are:

HEMATOLOGICAL MALIGNANCIES Chronic Myeloproliferative Disorders Chronic Lymphoproliferative Disorders and Non-Hodgkin’s Lymphomas Myelomas Acute Myeloblastic Leukemia GENETAQ carries out testing for:

IMMUNOLOGICAL DISEASES Molecular genetic studies of HLA alelles HLA-B*5701 HLA-DQ2 HLA-DQ8 HLA-DQ HLA-DR4 HLA-DR1 HLA-B27

CHROMOSOMOPATHIES Down Syndrome (chromosome 21) Patau Syndrome (chromosome 13) Edwards Syndrome (chromosome 18) Chromosomopathies are studied by QF-PCR Y X Sexual chromosome syndromes (XY)

GENOMIC PROFILES Antiaging NutriChip Sport Profile 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.

MOLECULAR MICROBIOLOGY Microbiology testing with clinical applications Human Papillomavirus (HPV) Detection and Typification is also available Testing for most viruses, bacterial and parasites are 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.