Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Platelet glycoprotein IX

On the surface of platelets glycoprotein 9 combines with glycoprotein 1b to form a receptor for von Willebrand factor. Mutations can cause the autosomal recessive disorder Bernard-Soulier syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 10 days
Specimen type genomic DNA

Related Diseases:

Bernard-Soulier syndrome
GP1BA
GP1BB
GP9

References:

1.

NCBI article

NCBI 2815 external link
2.

OMIM.ORG article

Omim 173515 external link
3.

Orphanet article

Orphanet ID 122244 external link
4.

Wikipedia article

Wikipedia EN (Glycoprotein_IX) external link
Update: Aug. 14, 2020
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