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Glanzmann Thrombasthenia (main mutation)

Cardiology 04.017

Glanzmann Thrombasthenia (main mutation)

ATHSCL
Signs/symptoms: Thrombosis
Complications: Atherosclerosis, coronary heart disease
Early diagnosis/treatment: Yes

Material required:
Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: Yes
Chromosomal localization: 17q21.32 OMIM number: 173470

Platelet glycoprotein IIIa / Integrin, beta (mutation L33P)

GP3A

Gene regions tested:
Gene regions: Subunit beta
Amino acid positions: L33P
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:
8820.00 8811.01 8819.01
  TP REVAL: 250 TP Value: 0.9 CHF 225.00
Other europe: EUR 160.00
Other regions: USD call

References:
Lefkovits J, Plow EF, Topol EJ. Platelet glycoprotein IIb/IIIa receptors in cardiovascular medicine. New Eng. J. Med. 332:1553-1559,1995.

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