Glanzmann's Thrombasthenia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10081 ITGA2B 81479,81479 Order Options and Pricing
ITGB3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10081Genes x (2)81479 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

Glanzmann Thrombasthenia (GT) is the most commonly inherited disorder of platelet function. Extensive phenotypic variability is seen with GT where mucocutaneous bleeding episodes are the most uniform symptom. Other clinical features may include hemorrhage, easy bruising, postpartum bleeding, and menorrhagia. Platelet count and morphology are typically normal in patients with GT making diagnosis more difficult (Nurden et al. 2013). Bleeding in patients affected with GT is due to loss of the integrin receptor complex CD41, also known as GpIIb/IIIa or the αIIbβ3 integrin complex, thereby preventing platelet binding to fibrinogen at sites of vessel injury. Onset age is directly correlated to the amount of functional CD41 integrin complex with severe cases displaying symptoms in early childhood. Platelet infusions and recombinant factor VIIa treatments have been shown to curtail symptoms (Coppola et al. 2004; Poon et al. 2004). Genetic testing is helpful for differential diagnosis of GT from other disorders displaying mucocutaneous bleeding and platelet function defects.

Genetics

GT is inherited in an autosomal recessive manner through mutations in either the ITGB3 or ITGA2B genes. Causative variants are primarily missense affecting integrin complex formation or small deletions leading to frameshift and premature translation termination throughout both ITGB3 and ITGA2B (Jallu et al. 2010). The ITGB3 and ITGA2B proteins make up the αIIbβ3 integrin complex, also known as CD41 and GpIIb/IIIa. Activation of the αIIbβ3 integrin complex allows platelets to bind fibrinogen and join to form platelet plugs at sites of vessel injury (Nurden et al. 2013).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in either ITGB3 or ITGA2B account for nearly all cases of GT. Analytical sensitivity for detection of pathogenic variants in both genes is >95%. Clinical sensitivity for patients with GT symptoms (absence of platelet aggregation and αIIbβ3 expression) is >95% (Fiore et al. 2012).

Testing Strategy

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

This panel provides 100% 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

All patients with bleeding disorders and failure of platelet function testing. Most patients have a positive family history. Patients with easy bruising, prolonged nosebleeds and menorrhagia are also candidates (Fiore et al. 2012).

Genes

Official Gene Symbol OMIM ID
ITGA2B 607759
ITGB3 173470
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Glanzmann's Thrombasthenia AR 273800

Related Test

Name
PGxome®

Citations

  • Coppola A. et al. 2004. Thrombosis and haemostasis. 92: 1450-2. PubMed ID: 15583755
  • Fiore M. et al. 2012. European journal of human genetics : EJHG. 20: N/A. PubMed ID: 22781097
  • Jallu V. et al. 2010. Human mutation. 31: 237-46. PubMed ID: 20020534
  • Nurden AT. et al. 2013. Seminars in thrombosis and hemostasis. 39: 642-55. PubMed ID: 23929305
  • Poon MC. et al. 2004. Journal of thrombosis and haemostasis : JTH. 2: 1096-103. PubMed ID: 15219192

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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