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Thrombocytopenia via the GFI1B 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
11351 GFI1B 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11351GFI1B81479 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • 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 primarily 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. PubMed ID: 23397552). Some inherited thrombocytopenias are associated with an increased risk of developing myelodysplastic syndrome (MDS) and acute leukemia (AL) (Churpek et al. 2013. PubMed ID: 22691122). 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.

Genetics

GFI1B encodes a transcription factor essential for erythropoiesis and megakaryopoiesis. Pathogenic variants in GFI1B are associated with abnormal megakaryocytes and platelets and result in macrothrombocytopenia with a variable bleeding phenotype and the presence of red cell anisopoikilocytosis (Stevenson et al. 2013. PubMed ID: 23927492; Monteferrario et al. 2014. PubMed ID: 24325358). Inheritance is autosomal dominant. Abnormal GFI1B protein may act in a dominant negative manner resulting in thrombocytopenia with alpha-granule deficiency and the characteristic gray appearance found in Gray Platelet syndrome (Stevenson et al. 2013. PubMed ID: 23927492; Monteferrario et al. 2014. PubMed ID: 24325358; Kitamura et al. 2016. PubMed ID: 27122003). Missense, nonsense, and splice site variants have been reported in patients with GFI1B-related macrothrombocytopenia.

About two-thirds of patients with congenital macrothrombocytopenia are found to have variants in one of the following genes: MYH9, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, or ACTN1 (Kunishima et al. 2013. PubMed ID: 23434115). Variants in the GFI1B gene have so far been found in only a few patients and appear to be a much less frequent cause of thrombocytopenia.

Clinical Sensitivity - Sequencing with CNV PGxome

About two-thirds of patients with congenital macrothrombocytopenia are found to have variants in one of the following genes: MYH9, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, or ACTN1 (Kunishima et al. 2013. PubMed ID: 23434115). Pathogenic variants in the GFI1B gene have so far been found in only a few patients and appear to be a much less frequent cause of thrombocytopenia.

Testing Strategy

This test provides full coverage of all coding exons of the GFI1B 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 who may or may not have other symptoms including immunodeficiencies, and physical or neurological anomalies. Patients who do not harbor pathogenic variants in other inherited thrombocytopenia-related genes.

Gene

Official Gene Symbol OMIM ID
GFI1B 604383
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Bleeding Disorder, Platelet-Type, 17 AD 187900

Citations

  • Balduini et al. 2013. PubMed ID: 23397552
  • Churpek et al. 2013. PubMed ID: 22691122
  • Kitamura et al. 2016. PubMed ID: 27122003
  • Kunishima et al. 2013. PubMed ID: 23434115
  • Monteferrario et al. 2014. PubMed ID: 24325358
  • Stevenson et al. 2013. PubMed ID: 23927492

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

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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ORDER OPTIONS

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View Ordering Instructions

1) Select Test Method (Platform)


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.
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