Test Catalog

Molecular diagnosis of congenital coagulopathies by NGS: Factor V Deficiency

Code: LRD2833

Type: Estudi de coagulopaties congènites

Clinical information

Diagnostic Utility:

Identifying the molecular defect in F5 in patients diagnosed with DFV.

Factor V Deficiency (FVD)

FVD is a rare bleeding disorder caused by a reduction in the activity of factor V (FV). It affects approximately 1/1,000,000 people, although in countries like Iran and southern India, the frequency of this condition is increased up to tenfold. The signs and symptoms of this disease can start at any age, although more severe cases are evident in childhood, with noticeable mucocutaneous bleeding and bleeding related to the hemostatic system, such as those resulting from surgeries or dental extractions. Intracranial or gastrointestinal bleeding has also been described in severe cases. In women, menorrhagia is the most common symptom.

FVD is inherited in an autosomal recessive manner and is caused by mutations in F5, which encodes for coagulation factor V. These mutations prevent the production of functional coagulation factor V or greatly reduce the amount of protein in the bloodstream. Individuals with this condition typically have factor levels in the blood <10%. The most severely affected individuals have <1%. A reduced amount of functional factor V prevents blood from coagulating normally, leading to abnormal bleeding episodes that can be severe.

Application of a panel of multiple genes based on simultaneous amplification of exons and flanking intronic regions for sequencing using next-generation sequencing (NGS) techniques allows the simultaneous molecular study of genes related to congenital coagulopathies and hereditary bleeding disorders, including the Factor V gene (F5).

Method:

Next-generation sequencing (NGS)

Massive sequencing of exons and flanking intronic regions of F5 using a panel of genes related to congenital coagulopathies.

Traditional Sanger sequencing to confirm the mutation(s) detected by NGS in patients diagnosed with FVD, in order to arrive at an unambiguous result by analysing the specific region where the variant is located.

If no potential or definitive mutation causing the condition is identified, the medical team will be informed and discussions will take place regarding 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: 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: Clotted 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 V Deficiency.
Synonyms: Genetic study of FV, sequencing of F5.
Section: Congenital Coagulopathies
BST Rate: Check the updated rates here.

The molecular study request form must check the FV box and fill in the available phenotypic data.

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