Molecular Diagnostics for Inherited Platelet Disorders

Inherited platelet disorders NGS Panel

The Sanquin platelet NGS panel (test code X027-X063, X067) includes 73 genes.
This panel suits diagnosis of almost all known and of yet unknown inherited platelet disorders, covering genes associated with e.g. Glanzmann thrombasthenia, Bernard Soulier syndrome, May-Hegglin and other MYH9 disorders, Storage pool disease, Gray platelet syndrome, Wiskott-Aldrich syndrome, etc.(see Table below and Sanquin request form 273: genoom diagnostiek m.b.v. targeted NGS).

For fetal/neonatal alloimmune thrombocytopenia (FNAIT) diagnostics, we refer to request code T911 (Trombocytopenie van de pasgeborene) on our request forms 5 or 10. In case of a negative result (i.e. inclusive negative cross-match maternal serum with paternal platelets) but still continuing strong indication for the existence of an immunological cause for the fetal/neonatal thrombocytopenia, you can exclude the involvement of low frequency/private antigens. It is possible the serological cross-match is negative due to the low antibody binding on the heterozygous paternal platelets. The glycoprotein variant (antigen) can be detected using this panel (code X067).

On Sanquin request form 273 and by discussing with us all relevant information you can indicate which inherited platelet disorder is suspected (test code X027-X063, X067). All genes will be tested for each request, but your choice/information can help us find the most likely responsible variant(s). If you do not (yet) have a focus, you can choose test code X062

Tabel: Amplisec platelet NGS panel: platelet disorders and related genes

The Sanquin platelet NGS panel includes 73 genes, including the  mentioned platelet disorder related genes in the tabel below.