Category Archives: News

Health in Code to implement PacBio technology to facilitate complex diagnoses using HiFi whole genome long-read sequencing

The leading company in genetic diagnostics Health in Code is to bring in the first Revio™ machine in Spain, which will enable large-scale high-precision (HiFi) long reads to improve detection of variants in complex regions. This technology provides a more comprehensive view of human genomes, which could be a game changer for patients lacking a […]

New article on a causative gene for dilated cardiomyopathy: truncating variants in TBX20 are associated with its development

A new collaborative study led by Health in Code’s Cardiology Team with the participation of more than 20 national and international centers has been published in the journal Circulation: Genomic and Precision Medicine. The results demonstrate the association of TBX20 with the development of dilated/noncompaction cardiomyopathy; therefore, this gene should be included in the list […]

Expanding Knowledge on the Genetics of Hypertrophic Cardiomyopathy: A New Prevalent Intermediate-Effect Variant in the FHOD3 Gene

• The intermediate-effect variant p.Arg637Gln in the FHOD3 gene has been identified to increase the risk of developing hypertrophic cardiomyopathy and is associated with an aggressive phenotype in homozygous carriers.   • This conclusion comes from a new study led by Dr. Juan Pablo Ochoa, Medical Director at Health in Code, with Dr. Jesús Piqueras […]

Owl Metabolomics and Health in Code sign an agreement to expand their service offerings in the field of genomics, proteomics and metabolomics

Laboratorio Health in Code

Madrid, November, 8, 2023. OWL Metabolomics and Health in Code, leaders in the omics sciences, have signed a strategic agreement to expand their service offerings in the fields of genomics, proteomics, and metabolomics. This alliance will enable a more comprehensive and innovative approach to meeting the needs of their clients.   OWL Metabolomics is a […]

Massive Bio and Health in Code collaborate to enhance personalized oncology treatment through advanced genomic testing

massive bio health in code

Madrid, October 31, 2023. Personalized medicine leading companies, Massive Bio and Health in Code, have announced a groundbreaking collaboration. This partnership is set to redefine the cancer treatment by merging Massive Bio’s Artificial Intelligence (AI) capabilities with Health in Code’s advanced genomic testing.   This collaboration focuses on delivering personalized medicine to cancer patients, which […]

Health in Code acquires Genologica and strengthens its leading position in the Spanish genetics market

• Both companies have over 15 years of experience in the field of clinical genetics and share a vision of excellence in genomic diagnosis, aiming to provide healthcare professionals and patients with the best possible services. • These two companies will work independently both at the commercial and operational levels but will work together in […]

Dr. Charlotte Dravet: “Knowing the genetic origin of an epilepsy often allows to discard treatments such as surgery which should be an error”

charlotte dravet síndrome dravet

• Dravet syndrome discoverer, Dr. Charlotte Dravet, highlights importance of genetic studies in the improvement of diagnosis, which, according to her, has become possible earlier and has been given a strong basis. • “When the parents of a kid with epilepsy are well informed about the meaning of the genetics, they understand it is not […]

Molecular diagnosis has become essential in the study of inborn errors of immunity

• Health in Code sponsored the symposium “Primary causes of immune dysregulation disorders: the role of genetic testing in the process of diagnosing autoimmune/autoinflammatory disease” at the 44th Congress of the Spanish Society of Immunology, with the participation of doctors Ivona Aksentijevich and Elena Hsieh.   • José María García-Aznar, Head of Immunology at Health […]

10% of cancers are hereditary and predisposition to cancer can be detected with genetic tests

cáncer-hereditario-test-genético

The most common types of hereditary cancer are breast, colorectal, ovarian, melanoma, renal, and retinoblastoma. Early diagnosis, chemoprevention, and preventive surgery are key for clinical management prior to disease onset. The International Agency for Research on Cancer (IARC) has already placed cancer as the leading cause of mortality worldwide in 2030. Madrid, February 4, 2023.- […]