Test Catalog

Molecular Diagnosis of Congenital Coagulopathies by NGS: Factor X Deficiency

Code: LRD2833

Type: Estudi de coagulopaties congènites

Clinical information

Diagnostic Utility:

Identifying the molecular defect in F10 in patients diagnosed with DFX.

Factor X Deficiency (DFX)

DFX is a bleeding disorder caused by a decrease in the antigen and/or activity of Coagulation Factor X (FX). The estimated prevalence of this disease is 1 in 500,000. It affects both men and women equally. DFX can manifest at any age, but generally, severe forms of the disease manifest early in life. DFX typically leads to nosebleeds, easy bruising, skin bleeding, gingival bleeding, hematuria, and postsurgical bleeding. Women with DFX may experience menorrhagia, excessive bleeding during childbirth, and a high risk of spontaneous abortion. Occasionally, hemarthrosis occurs, and severe cases can present with intracranial, pulmonary, or gastrointestinal bleeding.

DFX follows an autosomal recessive inheritance pattern and is caused by mutations in F10, which encodes for plasma FX. Some mutations in F10 reduce the amount of FX in the bloodstream, resulting in a type I disorder. Other mutations in F10 lead to the production of a dysfunctional FX protein, causing a type II factor X deficiency.

Application of a multiple-gene panel involves simultaneous amplification of exons and flanking intronic regions for sequencing using Next-Generation Sequencing (NGS) techniques, allowing for the simultaneous molecular study of genes related to congenital coagulopathies and hereditary bleeding disorders, including the Factor X gene (F10).

Method:

Next-Generation Sequencing (NGS)

Massive sequencing of the exons and flanking intronic regions of F10.

Traditional Sanger sequencing to validate the mutation(s) detected by NGS in patients diagnosed with DFX, in order to reach an unequivocal result by analysing the specific region where the variant is found.

If no potential or definitive mutation causing the pathology is identified, this will be reported and discussed with the requesting medical team for the possibility of conducting additional studies.

Reference Values

Not applicable

Diagnostic Algorithm:

Not applicable

Turnaround Time:

30 working days

Specimen information

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

Stability:

  • At room temperature: 4 days
  • In the refrigerator: 10 days

Transport instructions: Preferably at room temperature

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

Other types of accepted samples:

  • 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 X deficiency.
Synonyms: Genetic study of DFX, F10 sequencing.
Section: Congenital Coagulopathies
BST Rate: Check the updated rates here.

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

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