
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.
X027 |
ADP receptor defect |
P2RY1; P2RY12 |
X028 |
Amegakaryocytaire trombocytopenie met radio-ulnaire synostose |
HOXA11 |
X030 |
Autosomaal dominante trombocytopenie 2 |
ANKRD26 |
X031 |
Autosomaal dominante trombocytopenie 4 |
CYCS |
X032 |
Bernard-Soulier syndroom |
GPIBA; GPIBB; GP9 |
X033 |
Hemorrhagische diathese door glycoproteine VI deficientie |
GP6 |
X034 |
Chediak-Higashi syndroom |
LYST |
X035 |
Congenitale amegakaryocytaire trombocyopenie (CAMT) |
MPL |
X036 |
Trombocytopenie en trombocytemie 1 (THCYT1) |
THPO |
X038 |
Dense granulae afwijkingen |
NBEA |
X041 |
Familiaire plaatjes disorder met predispositie voor AML |
RUNX1 |
X042 |
Ghosal hematodiaphyseal dysplasia syndrome |
TBXAS1 |
X043 |
Ziekte van Glanzmann |
ITGA2B; ITGB3 |
X044 |
Gray platelet syndroom |
NBEAL2 |
X045 |
Gray platelet like syndroom |
GFI1B |
X046 |
Hermansky-Pudlak syndroom |
HPS1; AP3B1; HPS3-6; DTNBP1; BLOC1S1-7 |
X047 |
Leukocyte integrin adhesion deficientie, type III |
FERMT3 |
X048 |
Macrotrombocytopenie, β-tubuline 1 gerelateerd |
ACTN1; FLNA; TUBB1 |
X049 |
Macrothrombocytopenia/Stomatocytosis, Mediterranean |
ABCG5; ABCG8 |
X050 |
May-Hegglin en andere MYH9 afwijkingen |
MYH9 |
X052 |
Pari-Trousseau trombocytopenie en Jacobson syndroom |
FLI1 |
X053 |
Plaatjes-type von Willebrand ziekte |
GP1BA |
X054 |
Plaatjes-type bloeding aandoening 18 |
RASGRP2 |
X055 |
Quebec platelet disorder |
PLAU |
X056 |
Scott syndroom |
ANO6 |
X058 |
Trombocytopenie en gevoeligheid voor kanker |
ETV6 |
X059 |
Trombocytopenie absent radius (TAR) syndroom |
RBM8A |
X060 |
Wiskott-Aldrich syndroom (X-linked trombocytopenie) |
WAS |
X061 |
X-linked trombocytopenie met dyserytropoiesis |
GATA1 |
X063 |
Tromboxane A2 receptor defect |
TBXA2R |
X062 |
Trombocytopathie, onduidelijke onderliggende pathologie |
Alle bovenstaande genen |
Low Frequent/Private HPA |
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X067 |
Low Frequent/Private HPA investigation |
ITGA2B; ITGAB3; GPIBA; GPIBB; ITGA2 |
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