Thrombophilia
Thrombophilia is a group of multicausal disorders in which blood has an increased tendency to clot. This may be caused by acquired conditions or genetic inheritance. Thrombophilia is associated with a high risk of developing deep venous thrombosis and/or venous thromboembolism that may result in myocardial infarction, stroke, and ischemia.
The most common genetic causes of thrombophilia are due to factor V Leiden mutation, deficiency of protein S, protein C, and antithrombin III.
Genetic testing for these conditions can be used to confirm the diagnosis and minimize the risk of developing a thrombosis.
We offer a screening solution for the genes causing thrombophilia.
Panel content
we offer a screening solution for the gene mutations involved in thrombophilia with a designed panel consisting of 14 genes. The genes are based on clinical evidence, scientific publications, Human Gene Mutation Database (HGMD), and Online Mendelian Inheritance in Men (OMIM).
The genes on the panel are frequently evaluated and updated.
Analysis technique
Thrombophilia panel is performed using Next Generation Sequencing (NGS), an advanced technique that offers deep, large-scale deciphering of the genome. The technique has revolutionized genetics by enabling different approaches for high-throughput, scalable sequencing.
Bioinformatics
Panels may include both codings, non-coding, and regulatory regions of the genome, sequenced to a minimum depth of 20. Any coding regions are analyzed +/- 10 base pairs from the exon-intron boundary.
The data is analyzed and annotated with ourstate-of-the-art in-house developed computational pipeline, integrating high-tech machine learning algorithms with industry-standard software solutions to deliver the most comprehensive data analysis. Throughout the workflow, rigorous quality control steps ensure consistent, valid, and accurate results.A plethora of professional, curated databases are integrated into our pipeline, including, but not limited to, gnomAD, ClinVar, Omim, HGMD, RefSeq, and DBSNP, ensuring high confidence variant classifications. Furthermore, several prediction tools are integrated into the variant classification, such as SIFT, PolyPhen, MutationTaster, AION, SpliceFinder, etc. All quality assessment metrics are available upon request. In case of failure to acquire data from specific genomic target regions within a panel, you will be notified.