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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

Cyclische 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

X067

Low Frequent/Private HPA investigation

ITGA2B; ITGAB3; GPIBA; GPIBB; ITGA2