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Factor X Deficiency via the F10 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
11313 F10 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11313F1081479 81479,81479 $890 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 backbone).

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

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

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Factor X (FX) deficiency is a severe rare bleeding disorder affecting about 1 in every 1,000,000 individuals. FX deficiency disease severity ranges from mild to severe and is corollary to the degree of FX protein activity impairment. In severe cases, symptoms occur shortly after birth with umbilical cord or central nervous systems bleeding followed by hemarthrosis, muscle hematomas, recurrent epistasis, and gastrointestinal bleeding. Mild cases may only experience bleeding episodes following surgeries, trauma, or childbirth (Menegatti and Peyvandi 2009). Genetic testing can be helpful in distinguishing FX deficiency from other rare bleeding disorders and acquired forms of the disease including systemic amyloid light-chain amyloidosis (Choufani et al. 2001). Patients with FX deficiency can be treated with fresh frozen plasma or prothrombin complex concentrates containing FX to minimize bleeding (Menegatti and Peyvandi 2009).

Genetics

FX deficiency is primarily inherited in an autosomal recessive manner through pathogenic variants in the F10 gene. Severity of bleeding episodes is correlated to the degree of FX activity with most severe cases having FX activity <1%. Patients heterozygous for a pathogenic variant in the F10 gene have been reported to have mild bleeding phenotypes after surgeries, dental extractions, or child birth and may require replacement therapy (Karimi et al. 2008). There are two types of FX deficiency. In patients with type 1 disease, both FX activity and levels are decreased. In type 2 disease, FX levels are unaffected but activity is decreased (Menegatti and Peyvandi 2009). Missense variants represent about 75% of all causative variants and primarily occur within exon 8. However, missense variants have also been reported throughout the coding region. Small insertions/deletions, gross deletions, nonsense, and splice site variants have also been reported in about 25% of cases (Herrmann et al. 2006; Menegatti and Peyvandi 2009). The F10 gene encodes Factor X protein which is involved in the coagulation cascade. Factor X is the first protein involved in the common pathway and aids in the conversion of prothrombin to thrombin to facilitate fibrin clotting (Karimi et al. 2008).

Clinical Sensitivity - Sequencing with CNV PGxome

Rare bleeding disorders (RBD) include inherited deficiencies of coagulation factors fibrinogen, FII, FV, FV + FVIII, FVII, FX, FXI, and FXIII. Factor X deficiency accounts for ~10% of RBD cases. In a series of 102 patients with FX Deficiency, causative variants in the F10 gene were identified in 89% of patients (Herrmann et al. 2006).

Gross deletions ranging from single exon to the entire F10 gene have been reported in patients with FX Deficiency. These pathogenic variants are found in less than 5% of patients with FX deficiency (Menegatti and Peyvandi 2009).

Testing Strategy

This test provides full coverage of all coding exons of the F10 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 excessive bleeding, prolonged PT and PPT are consistent with the diagnosis of FX deficiency. Abnormal Factor X activity assay (FX:C) and FX antigen levels (FX:Ag) are the most accurate identifiers of disease (Menegatti and Peyvandi 2009). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in F10.

Gene

Official Gene Symbol OMIM ID
F10 613872
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Factor X Deficiency AR 227600

Citations

  • Choufani E.B. et al. 2001. Blood. 97: 1885-7. PubMed ID: 11238135
  • Herrmann F.H. et al. 2006. Haemophilia. 12: 479-89. PubMed ID: 16919077
  • Karimi M. et al. 2008. Haematologica. 93: 934-8. PubMed ID: 18403394
  • Menegatti M., Peyvandi F. 2009. Seminars in Thrombosis and Hemostasis. 35: 407-15. PubMed ID: 19598069

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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