Home
HelpTest Code GNTHR Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Ordering Guidance
Special coagulation testing for evaluating patients with thrombosis or hypercoagulability states should be performed prior to genetic testing. For more information see AATHR / Thrombophilia Profile, Plasma and Whole Blood.
This test is designed to evaluate a variety of thrombophilia.
This test is not designed to evaluate for a single common hereditary thrombosis disorder, such as when an individual has a known family history of antithrombin deficiency, protein C deficiency, or protein S deficiency, specifically. If testing for a particular common hereditary thrombosis disorder is desired, single gene tests are available for the SERPINC1, PROC, and PROS1 genes. See GNANT / Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies; GNPRC / Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies; or GNPRS / Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies.
This test is not designed to evaluate for hereditary bleeding disorders. If bleeding is the indication for testing and testing for hereditary bleeding disorders is desired, bleeding panels are available. See GNBLF / Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies or GNBLC / Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Rare Coagulation Disorder Patient Information is required. Testing may proceed without the patient information, however, the information aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.
Specimen Required
Specimen Type: Whole blood
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Forms
1. Rare Coagulation Disorder Patient Information (T824) is required.
2. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
3. If not ordering electronically, complete, print, and send an Coagulation Test Request (T753) with the specimen.
Useful For
Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder
Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic alteration in one or more of 16 genes associated with a variety of hereditary thrombosis disorders
Determining the disease-causing alterations within one or more of these 16 genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of a thrombosis disorder
Identifying the causative alteration for genetic counseling purposes
Prognosis and risk assessment based on the genotype-phenotype correlations
Carrier testing for close family members of an individual with a hereditary thrombosis disorder diagnosis
This test is not intended for prenatal diagnosis.
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Thrombosis Comprehensive Panel, NGSSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Thrombophilia is defined as an acquired or familial disorder associated with thrombosis. The clinical presentation of an underlying thrombophilia predominantly includes venous thromboembolism (deep vein thrombosis, pulmonary embolism, superficial vein thrombosis). Other manifestations linked to thrombophilia include recurrent miscarriage and complications of pregnancy (eg, severe preeclampsia, abruptio placentae, intrauterine growth restriction, and stillbirth).
Determination of a hereditary thrombosis disorder contributing to thrombotic events in an individual or family can be useful for prognosis and risk assessment. Identification of an alteration that is known or suspected to cause disease can also be useful for determining the risk for thrombosis for family members.
This panel evaluates 16 genes associated with a variety of hereditary thrombosis disorders, including thrombotic thrombocytopenic purpura; thrombophilia due to thrombin defect; thrombophilia due to activated protein C resistance; fibrinogen deficiencies (afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia); histidine-rich glycoprotein deficiency; paroxysmal nocturnal hemoglobinuria (somatic); familial hyperfibrinolysis; plasminogen deficiency and dysplasminogenemia; protein C deficiency; purpura fulminans; protein S deficiency; antithrombin deficiency; heparin cofactor 2 deficiency; and thrombomodulin deficiency.
The risk for developing thrombosis associated with these syndromes varies. For example, the relative risk (95% CI) for the incidence of a first-lifetime venous thromboembolism event associated with antithrombin deficiency is 17.5 (9.1-33.8), protein C deficiency is 11.3 (5.7-22.3), and protein S deficiency is 32.4 (16.7-62.9).(2) Several of the genes on this panel have established thrombosis risk or expert group guidelines.(1-6)
Indications for testing include, but are not limited to:
-Individuals with venous thromboembolism (VTE) under the age of 50, recurrent and/or spontaneous VTE, or VTE at an unusual site (eg, hepatic, mesenteric, portal, cerebral veins)
-Individuals with a strong family history of thrombosis or pulmonary embolism
-Individuals with warfarin-induced skin necrosis or neonatal purpura fulminans
-Individuals whose personal or family history indicates coinheritance of multiple hereditary thrombosis
Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81443