AFIBRINOGENEMIA / DYSFIBRINOGENEMIA / HYPOFIBRINOGENEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 3 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Afibrinogenemia, Dysfibrinogenemia, and Hypofibrinogenemia panel allows for the simultaneous analysis of the three genes involved in the main congenital fibrinogen disorders. Fibrinogen is an essential protein for clot formation and hemostasis. These disorders can manifest as spontaneous or prolonged bleeding, hematomas, delayed wound healing, and, in some cases, paradoxical thrombotic events. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs identifies pathogenic variants in the Aα, Bβ, and γ chains of fibrinogen, encoded by the FGA, FGB, and FGG genes, which are fundamental for its synthesis and assembly. This analysis facilitates etiological diagnosis, clinical subtype classification, and individualized therapeutic guidance.
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