GLANZMANN THROMBASTENIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
The Glanzmann Thrombasthenia Panel analyzes two genes involved in this autosomal recessive inherited bleeding disorder, caused by defects in the platelet integrin αIIbβ3 receptors, which are responsible for platelet aggregation. Clinically, it presents with epistaxis, gingival bleeding, menorrhagia, or prolonged bleeding after surgery. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the detection of mutations in the genes that encode the platelet receptor subunits. Some of the genes included in this panel are ITGA2B and ITGB3.
Después súbela en el formulario inferior.
Ningún archivo seleccionado
Delivery time
3-4 weeks
Sample
Blood
Other tests
24Genetics - Pharmacogenetics
700, Active, Farmacogenética, Fertilidad, Genotipado, Pharmacological predisposition., Polimorfismos, Predisposición farmacológica., Saliva, Secuenciación Illumina, Temperatura ambiente, Toxicología y farmacogenética
24Genetics - Nutrigenetics
700, Active, Cliente, Estudio de la dieta más adecuada., Genotipado, Nutrigenética, Polimorfismos, Rendimiento deportivo, Saliva, Secuenciación Illumina, Study of the most suitable diet., Temperatura ambiente,
24Genetics - Complete All-in-one pack 7 genetic tests
700, Active, ancestral and sport study., Ancestros, Chequeo general, Dietary, Múltiples, Parentesco, personality, pharmacological, Polimorfismos, skin,