Coagulation Factor Deficiency Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10351 F10 81479,81479 Order Options and Pricing
F11 81479,81479
F12 81479,81479
F13A1 81479,81479
F13B 81479,81479
F2 81479,81479
F5 81479,81479
F7 81479,81479
F8 81407,81406
F9 81238,81479
FGA 81479,81479
FGB 81479,81479
FGG 81479,81479
GGCX 81479,81479
LMAN1 81479,81479
MCFD2 81479,81479
SERPINE1 81479,81479
SERPINF2 81479,81479
VKORC1 81479,81479
VWF 81408,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10351Genes x (20)81479 81238, 81406, 81407, 81408, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

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

The coagulation factor deficiency panel includes testing for a large group of inherited bleeding disorders including three types of hemophilia (F9), von Willebrand disease (VWD) and rare bleeding disorders (RBD). RBDs include inherited deficiencies in fibrinogen, factor (F) II, FV, FV +FVIII, FVII, FX, FXI, FXII, FXIII, plasminogen activator inhibitor, alpha-s-plasmin inhibitor, and combined factor deficiencies (Othman 2013; Peyvandi et al. 2012). Hemophilia A, B, and VWD disease make up ~95% of bleeding disorders due to coagulation factor deficiencies. RBDs occur in one of 500,000 people and equally affect males and females, unlike Hemophilia A and B which arises in males. Symptoms among the various coagulation factor deficiencies range greatly, yet are often phenotypically similar between the specific disease states (Peyvandi et al. 2013). These disorders are also mirror symptoms of many inherited platelet defect disorders (Watson et al. 2013; Diz-Küçükkaya 2013). Bleeding episodes can range from mild with individuals being asymptomatic until incursion of trauma or surgery to severe with life threatening hemorrhages. The coagulation cascade works concurrently to mitigate bleeding through formation of fibrin clots at sites of injury. Each coagulation factor often has its own biochemical assay to assess its function which means diagnosis, especially of RBDs, may be cumbersome. Genetic testing provides a means to examine multiple coagulation factor genes simultaneously to quickly identify potential causes to disease (Peyvandi et al. 2013).

Genetics

Hemophilia A and B are inherited through an X-linked recessive manner through pathogenic variants in the F8 and F9 genes respectively and primarily affect males. VWD is inherited in both autosomal dominant and recessive manners through pathogenic variants in the VWF gene. RBDs are all inherited in an autosomal recessive manner with deficiencies in FVII, FXI, or FV accounting for ~80% of cases. RBD genes include FGA, FGB, FGG, F2, F5, F7, F10, F11, F12, F13A1, F13B, MCFD2, LMAN1, SERPINE1, SERPINF2, GGCX, and VKORC1 (Othman 2013; Peyvandi et al. 2012). See individual test descriptions for additional information on the molecular biology of each gene.

Clinical Sensitivity - Sequencing with CNV PGxome

Analytical sensitivity should be high because ~95% of pathogenic variants reported are detectable by this method. The exception is the F8 gene which has inversions in ~40% of cases of hemophilia A which are not detected by this method.

For coagulation deficiency genes, large deletions are represent 5% of causative variants in the F10, 2% in F11, 3% in F13A1, 2% in F5, 2% in F7, 6% in F8, 3% in F9, 15% in FGA, and 5% in VWF (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 97.5% coverage of all coding exons of the genes 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 coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Patients exhibiting excessive bleeding while having normal platelet counts and function are ideal candidates. This test especially aids in a differential diagnosis of similar phenotypes, rules out particular syndromes, and provides the analysis of multiple genes simultaneously. Individuals who are suspected of any of these disorders, especially if clinical diagnosis is unclear and individuals who have been found to be negative by mutation analysis for a single gene test are candidates.

Genes

Official Gene Symbol OMIM ID
F10 613872
F11 264900
F12 610619
F13A1 134570
F13B 134580
F2 176930
F5 612309
F7 613878
F8 300841
F9 300746
FGA 134820
FGB 134830
FGG 134850
GGCX 137167
LMAN1 601567
MCFD2 607788
SERPINE1 173360
SERPINF2 613168
VKORC1 608547
VWF 613160
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Diz-Küçükkaya R. 2013. Hematology. 2013: 268-75. PubMed ID: 24319190
  • Human Gene Mutation Database (Bio-base).
  • Othman. 2013. PubMed ID: 23982907
  • Peyvandi F. et al. 2012. Haemophilia. 18 Suppl 4: 148-53. PubMed ID: 22726099
  • Peyvandi F. et al. 2013. Blood. 122: 3423-31. PubMed ID: 24124085
  • Watson S.P. et al. 2013. Journal of thrombosis and haemostasis : JTH. 11 Suppl 1: 351-63. PubMed ID: 23516995

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

View Ordering Instructions

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.

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