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THE FUTURE IS HERE
Genetic diagnostics for your daily practice
SYNLAB Group is the leader in medical diagnostic services and special diagnostics in Europe. The Group offers a full range of innovative and reliable medical diagnostics to patients, practising doctors, hospitals and clinics, governments, and corporations.
SYNLAB operates in more than 30 countries across four continents. More than 27,000 employees, including over 2,000 medical experts, contribute every day to the Group’s worldwide success.
SYNLAB: the European leader in special diagnostics
Our international footprint as a leader in medical diagnostics and specialty testing makes us a unique partner in the field of genetics: with our network of over 30 countries on 4 continents, and over 2,000 medical experts, we offer our expertise and state-of-the-art services worldwide.
A strong market position enables SYNLAB to attract and retain industry-leading medical experts and qualified specialists. As a result, the Group has cultivated a wide network of medical experts, who collaborate on dozens of projects led by university departments, research centres and the pharmaceutical industry. SYNLAB scientists published over 330 scientific articles in 2023 continuing the successful track record of publications over the years.
SYNLAB’s genetics experts and counsellors support doctors and patients throughout the entire human lifecycle, from preconception to old age. Our genetic experts are here to support and guide healthcare professionals in the complex world of medical genetic testing. SYNLAB provides not only state-of-the-art genetic testing but also a complete service, from consultation and support to general practitioners and medical specialists, via genetic counselling for patients to support and follow-up for their family members.
In addition, SYNLAB covers the complete field of diagnostic services, from clinical biochemistry to haematology to medical imaging. With SYNLAB you have access to the medical diagnostic services you need, from routine to specialised tests, allowing you to provide better patient care and follow-up with a single partner.
Through our international community of experts and focus on medical excellence, SYNLAB also offers diverse and worldwide opportunities for talents to grow and develop.
THE FUTURE IS HERE: Genetic Diagnostics for Your Daily Practice
Scientific Symposium
SYNLAB, a leading diagnostic services provider, is at the forefront of integrating new technologies into clinical genomics. Recent studies have focused on diagnostic validation and comparative data of Whole Exome Sequencing (WES) across prominent Next-Generation Sequencing (NGS) platforms, shedding light on their efficacy in clinical diagnostics.
Comparative clinical assessments of NGS solutions from Illumina, MGI, and Element Bioscience offer insights into their respective accuracy and suitability for mutation detection in human disease. Secondly, we go beyond traditional DNA analysis: regulatory-region analysis emerges as a promising avenue with potential implications for enhancing clinical diagnosis precision.
In disease-specific research, such as Diamond Blackfan Anaemia, novel pathogenic variants are uncovered through CHIPseq data analysis, opening new avenues for understanding and managing the condition. Finally, the success story from Germany in the effective management of familial hypercholesterolemia exemplifies the added value of synergy between clinical chemistry and human genetics.
As SYNLAB continues to pioneer these advancements, their integration promises to refine diagnostic accuracy and therapeutic approaches, ultimately benefiting patients by improving outcomes in clinical genomics and diagnostics.
Session ID CS21
CS21 – Corporate Satellite 21
Sunday 2 June, 14:00 - 15:30
Meeting room New York
| Welcome | Dr Michael Morris (Chair) Group Head of Genetics, SYNLAB |
| Rolling in Clinical diagnostics : Diagnostic validation and comparative data of WES on two current NGS platforms | Dr Natália Salgueiro SYNLAB Genética Porto |
| Comparative clinical overview: diagnostic NGS with Illumina, MGI and Element Bioscience using CE-IVD solutions | Dr Alejandra Perez Service Direction Manager, Sistemas Genomicos, SYNLAB Valencia |
| Beyond DNA: Regulatory-region analysis and its possible impact on clinical diagnosis | Dr Juan Carlos Triviño Head of Bioinformatics, Sistemas Genomicos, SYNLAB Valencia |
| Identifying New Diagnostic Regions in Diamond BlackFan Anaemia by Analysing CHIPseq Data | Clodagh McGuire Synnovis LLP, King’s College Hospital, London |
| Linking clinical chemistry and human genetics: a success story in Germany for familial hypercholesterolemia | Dr Winfried März SYNLAB Academy, SYNLAB Holding Deutschland GmbH and Medical University of Graz |
SYNLAB presentations at ESHG 2024
| SYNLAB Portugal | |
|---|---|
| # 442 | Natália Salgueiro Whole Exome Sequencing - first tier test for fetuses with severe central nervous system anomalies |
| # 4464 | Ana Patrícia Jesus Internal data plays a crucial role in variant classification: a MYH7 VUS reclassification |
| # 4008 | Micaela Oliveira The impact of genetic diagnosis in elderly cardiomyopathy patients |
| SYNLAB Germany | |
| # P05.007.C | Nicole Meier Interpretation of risk factors and incidental findings in a patient with acute kidney injury requiring kidney replacement therapy - A case report |
| Synnovis (SYNLAB UK) | |
| # 1757 | Rebecca Haines BASHer (BiAllelic SNP Haplotyper) Software: Streamlining SNP Haplotyping in Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) |
A healthy baby against all odds
Our patient, a 38-year-old man, had suffered all his life from the skeletal disease "Hereditary Multiple Osteochondromas" (HMO).
The condition had led to multiple operations to correct many recurrent bone deformities. He was the only member in his family to be affected.
The patient and his wife dreamt of having children but could not envision transmitting the disease to a child. Their best option was preimplantation genetic testing (PGT), allowing impregnation with an unaffected embryo.
Only half a dozen others
In the final months of 2018, medical geneticist Dr Silvia Shelby from the Romanian National Clinical Centre for Children’s Neurorecovery, Dr. Nicolae Robanescu Hospital, was contacted by a paediatric neurologist about an unusual case: a 10-year-old girl with a particular type of walking, short stature, microcephaly, severe intellectual disability, and unusual facial features. She had undergone genetic tests since she was a baby, but her condition had remained unknown.
- Rare disease
- Rare disease
- Rare disease
- Rare disease
- Rare disease