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Paris-Trousseau Thrombocytopenia via the FLI1 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
FLI1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8349FLI181479 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.

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

Inherited thrombocytopenias comprise a heterogeneous group of rare disorders characterized by low platelet counts. In adults, low platelet numbers are typically considered below 150,000/microL. Bleeding manifestations of thrombocytopenia include excessive bruising (purpura), petechiae, prolonged bleeding from cuts or from surgical procedures, spontaneous nose bleeds, and in women, heavy menstrual flows. Thrombocytopenia and consequent bleeding diatheses range in severity from mild to severe. About half of the inherited thrombocytopenias are syndromic disorders characterized by physical and neurological anomalies, and immunodeficiencies (Balduini et al. 2013). Some inherited thrombocytopenias are associated with an increased risk of developing myelodysplastic syndrome (MDS) and acute leukemia (AL) (Churpek et al. 2013). It is important to distinguish inherited thrombocytopenias from immune/idiopathic thrombocytopenias (ITP) in order to inform clinical management and identify potential at risk family members.

Paris-Trousseau syndrome and Jacobsen syndrome are overlapping disorders characterized by thrombocytopenia, facial and cardiac dysmorphism, growth restrictions and intellectual disability (Krishnamurti et al. 2001; Favier et al. 2003). These disorders are associated with deletions encompassing chromosome 11q. Platelets in patients with Paris-Trousseau syndrome and Jacobsen syndrome are large and contain giant alpha granules. The FLI1 gene is a transcription factor involved in megakaryocyte differentiation that resides on chromosome 11q and is located in the deleted region found in Paris-Trousseau syndrome and Jacobsen syndrome patients. Hemizygous loss of FLI1 and monoallelic expression are thought to contribute to the platelet phenotype found in Paris-Trousseau syndrome and Jacobsen syndrome patients (Raslova et al. 2004). Missense variants in FLI1 have also been reported in families with bleeding phenotypes and platelet dense granule secretion defects (Stockley et al. 2013).


Paris-Trousseau Thrombocytopenia is caused by pathogenic variants in the FLI1 gene; inheritance is autosomal dominant, though a case of apparent recessive inheritance in a consanguineous family was reported (Stevenson et al. 2015). FLI1 encodes a transcription factor found primarily in hematopoietic cells and that regulates gene expression during megakaryopoiesis (Bastian et al. 1999). To date, only a few pathogenic missense variants and one small deletion resulting in premature protein termination have been reported. All these variants have been located in the conserved ETS DNA-binding domain important for transcription factor function (Stevenson et al. 2015).

Clinical Sensitivity - Sequencing with CNV PGxome

In one study, FLI1 pathogenic variants were found in 3 of 13 unrelated patients with thrombocytopenia and dense granule secretion defects suggesting that FLI1-related thrombocytopenias may be one of the more abundant forms of inherited thrombocytopenias (Stockley et al. 2013). Stockley et al. (2013) reported that relatives of affected individuals were also affected, suggesting that penetrance of dominant FLI1 variants is high.

Testing Strategy

This test provides full coverage of all coding exons of the FLI1 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 a family history of thrombocytopenia, and who have platelets with large alpha-granules and abnormal platelet function who may also have heart anomalies, changes in facial structure, and intellectual disability are candidates for this test.


Official Gene Symbol OMIM ID
FLI1 193067
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Thrombocytopenia, Paris-Trousseau Type 188025

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  • Balduini C.L. et al. 2013. Seminars in Thrombosis and Hemostasis. 39: 161-71. PubMed ID: 23397552
  • Bastian L.S. et al. 1999. Blood. 93: 2637-44. PubMed ID: 10194443
  • Churpek J.E. et al. 2013. Leukemia & Lymphoma. 54: 28-35. PubMed ID: 22691122
  • Favier R. et al. 2003. Thrombosis and Haemostasis. 90: 893 PubMed ID: 14597985
  • Krishnamurti L. et al. 2001. American Journal of Hematology. 66: 295-9. PubMed ID: 11279643
  • Raslova H. et al. 2004. The Journal of Clinical Investigation. 114: 77-84. PubMed ID: 15232614
  • Stevenson W.S. et al. 2015. Blood. 126: 2027-30. PubMed ID: 26316623
  • Stockley J. et al. 2013. Blood. 122: 4090-3. PubMed ID: 24100448


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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