Canine Fbg(Fibrinogen) ELISA Kit

Aims Amyloidosis is caused by deposition of abnormal protein fibrils, leading to damage of organ function. Hereditary amyloidosis represents a monogenic disease caused by germline mutations in 11 amyloidogenic precursor protein genes. One of the important but non-specific symptoms of amyloidosis is hypertrophic cardiomyopathy. Diagnostics of hereditary amyloidosis is complicated and the real cause can remain overlooked. We aimed to design hereditary amyloidosis gene panel and to introduce new next-generation sequencing (NGS) approach to investigate hereditary amyloidosis in a cohort of patients with hypertrophic cardiomyopathy of unknown significance. Methods Design of target enrichment DNA library preparation using Haloplex Custom Kit containing 11 amyloidogenic genes was followed by MiSeq Illumina sequencing and bioinformatics identification of germline variants using tool VarScan in a cohort of 40 patients. Results We present design of NGS panel for 11 genes (TTR, FGA, APOA1, APOA2, LYZ, GSN, CST3, PRNP, APP, 82M, ITM28) connected to various forms of amyloidosis. We detected one mutation, which is responsible for hereditary amyloidosis. Some other single nucleotide variants are so far undescribed or rare variants or represent common polymorphisms in European population. Conclusions We report one positive case of hereditary amyloidosis in a cohort of patients with hypertrophic cardiomyopathy of unknown significance and set up first panel for NGS in hereditary amyloidosis. This work may facilitate successful implementation of the NGS method by other researchers or clinicians and may improve the diagnostic process after validation

Congenital dysfibrinogenemia is a genetic coagulopathy that leads to compromised fibrinogen function. This case report describes a 26-year-old pregnant woman at the 38th week of gestation who presented with mild gingival bleeding and constant bruising on her joints. As part of her laboratory workup, fibrinogen was found to be significantly decreased and thrombin time was prolonged. Using whole exome DNA sequence analysis, a heterozygous mutation was identified in the fibrinogen ff (FGA) (c.104G > A; p.R35H) gene. This mutation has been reported previously in congenital dysfibrinogenemia (CD) patients who are usually asymptomatic and lack any obvious thrombotic complications. However, both post-partum disseminated intravascular coagulation and mild bleeding have been observed in this type of mutant. The patient in our case received fibrinogen concentrate as replacement therapy during her cesarean section to prevent severe bleeding. Neither major bleeding nor a thrombotic event was observed throughout her surgery.