Our panels include over 3,000 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Inherited skeletal diseases are difficult to subtype and classify into categories. The design and gene selection of our skeletal disease panels follows Mortier et al. (Nosology and Classification of Genetic Skeletal Disorders: 2019 Revision; PMID: 31633310).
In addition to many disorder-specific panels, larger disease groups are also targeted. Specifically, our Macrocephaly/Overgrowth Syndrome Panel and Microcephaly and Pontocerebellar Hypoplasia Panel are suitable for patients with abnormalities in skull structure and symptoms that substantially overlap with neurological diseases. Similarly, our Neuronal Migration Disorder Panel covers a broader set of genes related to holoprosencephaly, lissencephaly, and polymicrogyria.
What genetic diagnostics can offer patients with hereditary malformations
Genetic diagnostics is the most efficient way to subtype these diseases and provide the necessary information to make confident individualized treatment and management decisions. Moreover, identifying the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Additionally, genetic diagnosis can help in family planning.
En esta presentación, nuestra genetista la Dra. Raquel Pérez Carro destacará las ventajas del análisis de exoma trío, mostrando cómo este enfoque facilita el análisis e interpretación de variantes, así como una clasificación más precisa de las mismas y permite completar el estudio genético con una única prueba. A través de ejemplos de casos clínicos, se ilustrará cómo un análisis e interpretación de alta calidad de exoma trío puede ser decisivo a la hora de obtener respuestas para los pacientes.
Date: February 26, 2026 Time: 11:00 AM EST / 5:00 PM CET Whole Exome Sequencing (WES) is a powerful diagnostic tool, especially when performed as a family trio, which typically involves sequencing samples from both parents and their affected child. In this presentation, Dr Saija Ahonen and Dr Kirsty…
Summary Ectodermal dysplasias (ED) are a group of genetic conditions that can affect hair, teeth, nails, and sweat glands, sometimes leading to serious health issues like overheating and infections. To better understand the genetic causes of ED, we reviewed results from 250 patients who underwent next-generation sequencing (NGS) panel testing. These panels…
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