Test Catalog

Molecular Diagnosis of Congenital Coagulopathies by NGS: Factor XIII Deficiency

Code: 70809

Type: Estudi de coagulopaties congènites

Clinical information

Diagnostic Utility:

Identifying the molecular defect in F13A1 or F13B in patients diagnosed with DFXIII

Factor XIII Deficiency (DFXIII)

Congenital factor XIII deficiency (DFXIII) is a bleeding disorder caused by a reduction in the levels and activity of factor XIII (FXIII). DFXIII has an estimated prevalence of homozygous forms around 1/2,000,000. It affects both men and women equally. FXIII deficiency can occur at any age, but it is usually diagnosed in childhood. Umbilical cord bleeding occurs in 80% of cases. Other typical signs include intracranial bleeding (25-30%), soft tissue bleeding, hematomas, hemarthrosis (20%), and recurrent spontaneous abortions. Patients may have poor wound healing.

DFXIII is inherited in an autosomal recessive manner and is caused by mutations in the genes F13A1, which encodes the catalytic A subunit, and F13B, which encodes the B subunit. The phenotype is less severe when the mutated gene is F13B.

Application of a multiple-gene panel based on the simultaneous amplification of exons and flanking intronic regions for sequencing using next-generation sequencing (NGS) techniques allows for the simultaneous molecular study of genes related to congenital coagulopathies and hereditary bleeding disorders, including the Factor XIII genes (F13A1; F13B).

Method:

Next-Generation Sequencing (NGS)

Next-Generation Sequencing of the exons and flanking intronic regions of F13A1 and F13B with the application of a gene panel related to congenital coagulopathies.

Traditional Sanger sequencing to confirm the mutation(s) detected by NGS in patients diagnosed with DFXIII, in order to reach an unequivocal result, analyzing the specific region where the variant is located.

If no potential or definitively causative mutation is identified, it will be reported and discussed with the requesting medical team the possibility of performing complementary studies.

Reference Values

Not applicable

Diagnostic Algorithm:

Not applicable

Turnaround Time:

30 working days

Specimen information

Sample: Whole blood
Tube: EDTA K3 tube 5-10 ml if it is a blood sample
Minimum essential volume: 3 ml

Stability:

  • At room temperature: 4 days
  • In refrigeration: 10 days

Transport instructions: Preferably at room temperature

Reason for rejection: Coagulated sample and/or incorrectly identified.

Other types of accepted samples:

  • Purified DNA, minimum 300 ng (30 ng/µL)
  • Buccal mucosa: contact the laboratory to consult specimen collection specifications.

Administrative information

BST Code: LRD2833
Test Description: Molecular diagnosis of congenital coagulopathies by NGS: Factor XIII Deficiency.
Synonyms: Genetic study of DFXIII, sequencing of F13A1 and F13B.
Section: Congenital Coagulopathies
BST Rate: Check the updated rates here.

The box DFXIII must be checked on the molecular study request form and the available phenotypic data must be filled in.

Profiles:

N/A.

References

  • Peter J Hulick. Next-generation DNA sequencing (NGS): Principles and clinical Applications. Waltham, MA: UpToDate Inc. https://www.uptodate.com
  • DNA Sequencing by Capillary Electrophoresis. Applied Biosystems Chemistry Guide. Second Edition.

Base de dades de mutacions