The clinical analysis laboratory Catlab has recently renovated its Genetics area with the incorporation of a new Next Generation Sequencing (NGS) equipment. This is an Illumina NextSeq 2000 equipment, which is already in operation and housed in a new area specially designed for its use. The aforementioned renovation has been carried out in parallel with an expansion of the Genetics and Molecular Microbiology spaces.

Since the end of 2019, Catlab has been offering diagnostics based on Massive Sequencing or NGS. Initially, due to the high cost of the equipment, only the data analysis phase - drylab process - was incorporated. This ensured good service to patients and contributed to the expertise of professionals. Currently, the adjustment of the cost of high-capacity sequencing processes has allowed the laboratory to acquire this equipment with the aim of also controlling the complete processing of the sample, from reception to the generation of the results report (wetlab process). In addition, having the complete process of genetic analysis has allowed to obtain accreditation under the ISO 15189:2023 standard for NGS tests.

Next Generation Sequencing: a new paradigm in genetic diagnosis

In recent years, genetics has experienced an exponential growth in the clinical diagnosis of diseases whose genetic origin was previously unknown or for which the approach was technically very complex. “NGS has substantially changed the way genetic diagnosis is approached: thousands to millions of DNA molecules can be sequenced simultaneously using NGS and obtaining results in a very short time,” says Dr. Raül Santamaria, director of Catlab .

The speed of technical advances in sequencing has made it possible to use exome sequencing or multi-gene panel sequencing as a first-line study in the diagnosis of hereditary genetic diseases. “Today, this approach is more cost-effective, faster and more efficient than partial sequencing of a few genes, and the introduction of this technology is therefore associated with a paradigm shift in the diagnostic process,” says Dr. Emma Triviño, head of the Genetics area at Catlab .

Recently, NGS has undergone great improvements in reducing the complexity of the process, both technically and economically. “In the case of complex genetic diseases, these improvements must be linked to a thorough examination of the patient by the clinician and a structured transmission of the data of interest to the laboratory professionals”, adds Dr. Santamaria. “In addition, it is necessary to provide adequate pre -test counseling to the patient/family, good integration of clinical and laboratory findings in the results and, finally, post-test genetic counseling to patients with the result obtained”, details Dr. Triviño .

Catlab Genetics team comments that "the incorporation of the new team has allowed us to internalize multiple determinations and the possibility, eventually, of addressing the diagnosis of any genetic-based disease. We work closely with clinicians to decide the appropriate approach in each case and provide patients with the best genetic counseling. "

Catlab's long history has resulted in great expertise in the field of genetic diagnosis of neurological, cardiac, ophthalmological, dermatological diseases, developmental disorders, dysmorphology as well as hereditary cancer.

Given the transversality of current genetics, Catlab has the optimal resources to provide service to all specialties. We work together with specialist physicians to approach each case in a personalized way, in order to provide the most precise and accurate result to patients and their families.

In relation to Genetics as a whole, a project to integrate the Genetics laboratories of CatLab and the Consorci Sanitari de Terrassa has been carried out throughout 2025. This action unifies the processes and establishes a definitive formula for collaboration between two work teams with a high level of expertise.

The integration allows the reference population in Genetics to expand to more than half a million inhabitants who will benefit from the most advanced techniques in both the study and the genetic counseling for patients and families. This expansion of the population allows us to have the best state-of-the-art equipment, highly trained professionals and to be a reference center in precision medicine for the entire population of Vallès Occidental Oest.