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Anti-Plasmin Deficiency via the SERPINF2 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
4231 SERPINF2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4231SERPINF281479 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

Anti-plasmin deficiency is a disorder characterized by excessive bleeding with severe bleeds often occurring during childhood. In severe cases, umbilical bleeding and intramedullary hematomas in the diaphysis of long bones may occur. Conversely, in minor cases excessive bleeding may only become apparent following deeper wounding such as trauma, surgery, and dental extractions. Prolonged bleeding is due to loss of α2 plasmin inhibitor resulting in premature dissolution of hemostatic platelet plugs before injury repair (Favier et al. 2001). Use of anti-fibrinolytic agents such as aminocaproic acid and tranexamic acid can be used to avoid hemorrhagic complications especially during surgical procedures (Miyauchi et al. 1996).

Genetics

Anti-plasmin deficiency affects both males and females. It is primarily inherited in an autosomal recessive manner, although affected heterozygous patients have been described. Mutations in the SERPINF2 gene are the only known cause of anti-plasmin deficiency. Reported causative mutations are mainly small insertions or deletions causing frame shifts and premature protein termination (Miura et al. 1989; Miura et al.1989; Maino et al. 2008). Missense mutations occur less frequently (Holmes et al. 1987). Documented mutations show a range of effects resulting in loss of protein expression, impaired intracellular trafficking, and/or loss of protein activity (Favier et al. 2001). SERPINF2 encodes the protein α2 plasmin inhibitor which competitively inhibits binding of plasminogen to fibrin and facilitates clotting at sites of vessel injury.

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity cannot be estimated because only a small number of patients have been reported. Analytical sensitivity should be high because all mutations reported are detectable by this method.

Testing Strategy

This test provides full coverage of all coding exons of the SERPINF2 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

This test is for individuals with severe bleeding and symptoms suggestive for Anti-plasmin deficiency. Candidates with decreased α2 plasmin inhibitor protein levels are the strongest candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SERPINF2.

Gene

Official Gene Symbol OMIM ID
SERPINF2 613168
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Anti-Plasmin Deficiency, Congenital AR 262850

Citations

  • Favier, R, N Aoki, and P de Moerloose. “Congenital Alpha(2)-plasmin Inhibitor Deficiencies: a Review. British Journal of Haematology 114, no. 1 (July 2001): 4-10. PubMed ID: 11472338
  • Holmes, W E, H R Lijnen, L Nelles, C Kluft, H K Nieuwenhuis, D C Rijken, and D Collen. Alpha 2-Antiplasmin Enschede: Alanine Insertion and Abolition of Plasmin Inhibitory Activity.Science (New York, N.Y.) 238, no. 4824 (October 9, 1987): 209-211. PubMed ID: 2958938
  • Maino, A, I Garagiola, A Artoni, S Al-Humood, and F Peyvandi. A Novel Mutation of alpha2-Plasmin Inhibitor Gene Causes an Inherited Deficiency and a Bleeding Tendency. Haemophilia: The Official Journal of the World Federation of Hemophilia 14, no. 1 (January 2008): 166. PubMed ID: 17961166
  • Miura, O, S Hirosawa, A Kato, and N Aoki. Molecular Basis for Congenital Deficiency of Alpha 2-Plasmin Inhibitor. A Frameshift Mutation Leading to Elongation of the Deduced Amino Acid Sequence.The Journal of Clinical Investigation 83, no. 5 (May 1989): 1598-1604. PubMed ID: 2496145
  • Miura, O, Y Sugahara, and N Aoki. Hereditary Alpha 2-Plasmin Inhibitor Deficiency Caused by a Transport-Deficient Mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a Trinucleotide Deletion Blocks Intracellular Transport. The Journal of Biological Chemistry 264, no. 30 (October 25, 1989): 18213-18219. PubMed ID: 2572590
  • Miyauchi, Y, Y Mii, M Aoki, S Tamai, Y Takahashi, and A Yoshioka. Operative Treatment of Intramedullary Hematoma Associated with Congenital Deficiency of Alpha 2-plasmin Inhibitor, A Report of Three Cases. The Journal of Bone and Joint Surgery. American Volume 78, no. 9 (September 1996): 1409-1414. PubMed ID: 8816660

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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