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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 3183 | F5 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
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.
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.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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