Scientific background:

Summary: The gene ITGA2B encodes a major component of the glycoprotein IIb-IIIa complex, which binds fibrinogen and controls platelet clutting. Mutations result in autosomal recessive Glanzmann thrombasthenia, and polymorphisms account for alloimmune thrombocytopenia of the newborn.

Methodology:

	clinical test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		25 working days
		Specimen		DNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.

Literature: 

Newman PJ et al. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel.
Burk CD et al. (1991) A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.
Kato A et al. (1992) Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex.
Poncz M et al. (1994) Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.
Schlegel N et al. (1995) The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene.
Wilcox DA et al. (1994) A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex.
Basani RB et al. (1996) Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3.
Ruan J et al. (1998) Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.
Grimaldi CM et al. (1998) Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.
Nair S et al. (2005) Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
Kannan M et al. (2008) Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation.