Test Catalog

Molecular diagnosis of congenital coagulopathies by NGS: Factor XII Deficiency

Code: 70808

Type: Estudi de coagulopaties congènites

Clinical information

Diagnostic Utility:

Identifying the molecular defect in F12 in patients diagnosed with DFXII.

Factor XII Deficit (DFXII)

DFXII, also known as Hageman factor deficiency, is a hemorrhagic disorder caused by a reduction in the levels and activity of factor XII (FXII). Its incidence is estimated at 1/1,000,000, although it is more common in Asians than in other ethnic groups. It affects both men and women. Individuals with this disease do not usually exhibit abnormal bleeding manifestations or other symptoms. It is not clear why individuals with FXII deficiency do not experience abnormal bleeding like those with deficiencies of other clotting factors.

DFXII is inherited in an autosomal recessive manner and is caused by mutations in F12, which encodes coagulation FXII.

Application of a multi-gene panel based on simultaneous amplification of exons and flanking intronic regions for sequencing by next-generation sequencing (NGS) techniques allows for the simultaneous molecular study of genes related to congenital coagulopathies and hereditary hemorrhagic disorders, including the Factor XII gene (F12).

Method:

Next-generation sequencing (NGS)

Next-generation sequencing of the exons and flanking intronic regions of F12.

Traditional Sanger sequencing to confirm the mutation(s) detected by NGS in patients diagnosed with DFXII, in order to reach an unequivocal result by analysing 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 additional 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

Reasons for rejection: Clotted sample and/or incorrectly identified.

Other accepted sample types:

  • Purified DNA, minimum 300 ng (30 ng/µL)
  • Oral mucosa: contact the laboratory to inquire about sample collection specifications.

Administrative information

BST Code: LRD2833
Test Description: Molecular diagnosis of congenital coagulopathies by NGS: Factor XII Deficiency.
Synonyms: Genetic study of DFXII, F112 sequencing
Section: Congenital Coagulopathies
BST Rate: Check the updated rates here.

In the molecular study request form, the DFXII box must be ticked and the available phenotypic data filled in.

Profiles:

Not applicable.

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