Factor V Deficiency via the F5 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
3183 F5 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3183F581479 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Factor V deficiency (also known as Owren Disease and parahemophilia) is an inherited bleeding disorder with a broad spectrum of symptoms. Mucosal bleeding is the most common manifestation with menorrhagia, muscle hematoma, and hemarthroses present in smaller subsets of patients (Thalji et al 2013). Unlike hemophilia A and B, bleeding severity is not directly correlated to factor serum levels. Patients may be treated with antifibrinolytics or receive fresh frozen plasma infusions to mitigate symptoms (Shakhnovich et al. 2013). About a third of patients are asymptomatic until incursion of trauma or surgery. Factor V deficiency may also be acquired in rare cases with auto-inhibitory antibodies directed against FV protein (Lippi et al. 2011). Patients with other pathological conditions such as liver disease have been shown to have reduced FV levels (Thalji et al. 2013). Genetic testing is helpful in the differential diagnosis of congenital and acquired Factor V deficiency states.

Genetics

Factor V deficiency is a rare autosomal recessive or compound heterozygous disease characterized by mutations in the F5 gene that affect males and females. To date, more than 200 different mutations have been documented as causative for the disease (Thalji et al. 2013). Missense mutations represent nearly 50% of causative alleles and are clustered to the A and C domains of the F5 gene and often affect secretion of FV protein (Montefusco et al. 2003; Chapla et al. 2011). Nonsense and splice site mutations leading to premature termination account for nearly 40% of Factor V deficiency (Delev et al. 2008; Cutler et al. 2010). Combined Factor V and VIII deficiency is phenotypically similar, but is due to causative mutations in the MCFD2 and LMAN1 genes (Peyvandi et al 2013). FV protein is part of the common coagulation pathway. Its activated form is an essential cofactor in the prothrombinase complex which is required to convert prothrombin to thrombin to promote clot formation.

Clinical Sensitivity - Sequencing with CNV PG-Select

About 95% of mutations in the F5 gene are detected through sequencing. If combined Factor V and VIII deficiency is ruled out, clinical sensitivity is predicted to be high as mutations in the F5 gene are the only known cause of congenital Factor V deficiency.

Testing Strategy

This test provides full coverage of all coding exons of the F5 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

This test is for individuals with symptoms and assays of hemostasis (prolonged PT and PPT) that suggest Factor V Deficiency. Ideal candidates have FV-specific PT assays indicating Factor V deficiency. Genetic testing is especially helpful in differential diagnosis of prolonged bleeding disorders. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in F5.

Gene

Official Gene Symbol OMIM ID
F5 612309
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Factor V Deficiency AR 227400

Related Tests

Name
Bleeding Disorders Panel
Coagulation Factor Deficiency Panel

Citations

  • Chapla, A, G R Jayandharan, E Sumitha, G Sankari Devi, P Shenbagapriya, S C Nair, A Viswabandya, B George, V Mathews, and A Srivastava. Molecular Basis of Hereditary Factor V Deficiency in India: Identification of Four Novel Mutations and Their Genotype-Phenotype Correlation. Thrombosis and Haemostasis 105, no. 6 (June 2011): 1120-1123. PubMed ID: 21647534
  • Cutler, J A, R Patel, S Rangarajan, R C Tait, and M J Mitchell. Molecular Characterization of 11 Novel Mutations in Patients with Heterozygous and Homozygous FV Deficiency. Haemophilia: The Official Journal of the World Federation of Hemophilia 16, no. 6 (November 2010): 937-942. PubMed ID: 20546033
  • Delev, D, A Pavlova, S Heinz, E Seifried, and J Oldenburg. Factor 5 Mutation Profile in German Patients with Homozygous and Heterozygous Factor V Deficiency. Haemophilia: The Official Journal of the World Federation of Hemophilia 15, no. 5 (September 2009): 1143-1153. PubMed ID: 19486170
  • Lippi, Giuseppe, Emmanuel J Favaloro, Martina Montagnana, Franco Manzato, Gian C Guidi, and Massimo Franchini. Inherited and Acquired Factor V Deficiency. Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis 22, no. 3 (April 2011): 160-166. PubMed ID: 21245750
  • Montefusco, Maria Claudia, Stefano Duga, Rosanna Asselta, Massimo Malcovati, Flora Peyvandi, Elena Santagostino, Pier Mannuccio Mannucci, and Maria Luisa Tenchini. Clinical and Molecular Characterization of 6 Patients Affected by Severe Deficiency of Coagulation Factor V: Broadening of the Mutational Spectrum of Factor V Gene and in Vitro Analysis of the Newly Identified Missense Mutations. Blood 102, no. 9 (November 1, 2003): 3210-3216. PubMed ID: 12816860
  • Peyvandi, Flora, Tom Kunicki, and David Lillicrap. Genetic Sequence Analysis of Inherited Bleeding Diseases. Blood 122, no. 20 (November 14, 2013): 3423-3431. PubMed ID: 24124085
  • Shakhnovich, V, J Daniel, B Wicklund, G Kearns, and K Neville. “Use of Pharmacokinetic Modelling to Individualize FFP Dosing in Factor V Deficiency. Haemophilia: The Official Journal of the World Federation of Hemophilia 19, no. 2 (March 2013): 251-255. PubMed ID: 23173558
  • Thalji, Nabil, and Rodney M Camire. Parahemophilia: New Insights into Factor v Deficiency. Seminars in Thrombosis and Hemostasis 39, no. 6 (September 2013): 607-612. PubMed ID: 23893775

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

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