Factor XIII deficiency is an autosomal recessive disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutations in the A subunit. Clinical symptoms of FXIIIB deficiency may be milder than that of FXIIIA deficiency.
Indications for Testing
Genetic testing to confirm the presence of a mutation(s) associated with factor FXIII deficiency.
Testing in relatives of an affected individual for clinical management and genetic counselling. These referrals require that the pathogenic mutation(s) has been identified in the index case.
Sequencing of the protein-coding regions is expected to detect >90% of disease alleles in individuals with an inherited deficiency.
Venous blood (2-5ml K-EDTA, not to be frozen prior to or during transport)
Genomic DNA (approximately 5μg)
Specimen containers and referral forms must be labelled with at least two corresponding unique identifiers.
Approximately 8 weeks (40 working days) from receipt of sample. A priority service may be available for urgent referrals at an additional cost, please contact the laboratory for further information.
Referrals must generally be made from the Clinical Genetics services or appropriate clinical specialist. It is assumed that informed consent for genetic testing has been obtained from the patient or their parent/guardian and that the implications of a positive result for other family members have been discussed.
NGS of F13A1 & F13B exons 1-15 & 1-12 (entire coding region)
Factor XIII Deficiency Diagnostic Test