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Factor VII Deficiency via the F7 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
F7 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4149F781479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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.


Genetic Counselors


  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Factor VII deficiency is an excessive bleeding disorder with clinical heterogeneity ranging from life-threatening to asymptomatic. Common symptoms include epistaxis, easy bruising, gum bleeding, hematoma, hemarthrosis, gastrointestinal bleeding and menorrhagia. Severe Factor VII deficiency represents ~15% of cases with bleeding starting early in life with intracranial and gastrointestinal hemorrhaging (Mariani and Bernardi 2009). Asymptomatic patients often do not display signs of the disorder until traumatic events or surgery. Late onset/mild form of Factor VII deficiency represents more than half of the cases for disease. Acquired Factor VII deficiency occurs as a result of liver disease and hypovitaminosis K (Giansily-Blaizot et al. 2004). Factor VII deficiency exhibits a poor genotype-phenotype relationship, therefore genetic testing may be helpful in refining inheritance patterns of the disease (Herrmann et al. 2009). Treatments for Factor VII deficiency include fresh frozen plasma, plasma derived FVII, and recombinant FVII (Lapecorella et al. 2008).


Factor VII deficiency is inherited in an autosomal recessive manner through mutations in the F7 gene. Recurrent mutations have been identified in patients with discordant clinical phenotypes suggesting that either environmental or other inherited components modify disease severity. Missense mutations are found in 80% of case of Factor VII deficiency with the majority residing within exon 8 and disrupting the catalytic domain of the protein (Mariani and Bernardi 2009). Splice site, nonsense, small insertion/deletions, and substitution mutations within the promoter region make up the remaining causative variants for disease (Herrmann et al. 2009; Millar et al. 2000; McVey et al. 2001). Gross deletions have been reported in only two cases to date (Herrmann et al. 2009; Giansily-Blaizot et al. 2007). Complete loss of FVII protein is incompatible with life (Rosen et al. 2005). The F7 gene encodes the serine protease FVII, a pro-coagulation factor. Upon vessel injury, FVII binds to tissue factor and initiates the coagulation cascade through activation of secondary coagulation factors including thrombin, FX, FIX, and FXII (Mariani and Bernardi 2009).

Clinical Sensitivity - Sequencing with CNV PGxome

Rare bleeding disorders (RBD) comprise inherited deficiencies of coagulation factors fibrinogen, FII, FV, FV + FVIII, FVII, FX, FXI, and FXIII (Peyvandi et al. 2012). Factor VII deficiency is the most common RBD and accounts for ~30% of cases. In 10% of people with Factor VII deficiency, no mutations in the F7 gene were identified (McVey et al. 2001). Analytical sensitivity for detection of F7 mutations is >95% as gross deletions have only been reported in two cases (Herrmann et al. 2009; Giansily-Blaizot et al. 2007).

Clinical sensitivity for deletion/duplication analysis is less than 5%. In a series of 192 patients with Factor VII or X deficiency, three patients had gross deletions spanning exons 1-9 (Rath et al. 2015).

Testing Strategy

This test provides full coverage of all coding exons of the F7 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with epistaxis, prolonged INR (greater than 1.5), and prolonged PT are indicative of Factor VII deficiency. Candidates with FVII:C enzymatic assays showing loss of protein activity (typically <2%) are ideal candidates (Mariani and Bernardi 2009). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in F7.


Official Gene Symbol OMIM ID
F7 613878
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Factor VII Deficiency AR 227500


  • Giansily-Blaizot M, Verdier R, Biron-Adr้ani C, Schved J-F, Bertrand MA, Borg JY, Cam-Duchez V Le, LeCam-Duchez V, Briquel ME, Chambost H, Pouymayou K, Dutrillaux F, et al. 2004. Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk? Haematologica 89: 704–709. PubMed ID: 15194538
  • Herrmann FH, Wulff K, Auerswald G, Schulman S, Astermark J, Batorova A, Kreuz W, Pollmann H, Ruiz-Saez A, Bosch N De, Salazar-Sanchez L, Greifswald Factor FVII Deficiency Study Group. 2009. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia 15: 267–280. PubMed ID: 18976247
  • Lapecorella M, Mariani G, International Registry on Congenital Factor VII Deficiency. 2008. Factor VII deficiency: defining the clinical picture and optimizing therapeutic options. Haemophilia 14: 1170–1175. PubMed ID: 19141157
  • Mariani G, Bernardi F. 2009. Factor VII Deficiency. Semin. Thromb. Hemost. 35: 400–406. PubMed ID: 19598068
  • McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG. 2001. Factor VII deficiency and the FVII mutation database. Hum. Mutat. 17: 3–17. PubMed ID: 11139238
  • Millar DS, Kemball-Cook G, McVey JH, Tuddenham EG, Mumford AD, Attock GB, Reverter JC, Lanir N, Parapia LA, Reynaud J, Meili E, Felton A von, et al. 2000. Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. Hum. Genet. 107: 327–342. PubMed ID: 11129332
  • Peyvandi F. et al. 2012. Haemophilia : the Official Journal of the World Federation of Hemophilia. 18 Suppl 4: 148-53. PubMed ID: 22726099
  • Rath M. et al. 2015. Hamostaseologie. 35 Suppl 1: S36-42. PubMed ID: 26540129
  • Rosen ED, Xu H, Liang Z, Martin JA, Suckow M, Castellino FJ. 2005. Generation of genetically-altered mice producing very low levels of coagulation factorVII. Thromb. Haemost. 94: 493–497. PubMed ID: 16268461


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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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