Test Database

Description

Analysis of the F10gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.

Clinical details

Heritable factor X deficiency is a rare autosomal recessive bleeding disorder, caused by defects in the F10 gene, with a prevalence of 1 in 0.5-1 million. Heterozygotes are generally asymptomatic but may exibit a mild bleeding phenotype and can be at greater risk of bleeding following surgery or trauma. Homozygotes may suffer hematuria, soft-tissue bleeds, hemarthroses, recurrent existaxis and menhorrhagia.

Related condition

Factor X deficiency Stuart-Prower factor deficiency Potential differential diagnosis: Vitamin K deficiency Vitamin K-dependent clotting factor deficiency (VKCFD). Amyloidosis

Reference range

n/a

Units

n/a

Synonyms

Factor X deficiency Stuart-Prower deficiency F10 Hereditary bleeding

Testing site

Synnovis : Genomics : St Thomas' Hospital

Laboratory

Molecular Haemostasis