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Test 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.

Testing Algorithm

A systematic diagnosis through conventional coagulation testing is recommended prior to considering genetic testing for any suspected thrombosis disorder.

 

Genetic testing for a hereditary thrombosis disorder is indicated if:

-Coagulation tests indicate a deficiency or functional abnormality (note these tests are best performed in medically stable patients who are not receiving particular anticoagulants)

-There is a clinical suspicion for a hereditary thrombosis disorder due to family history or atypical clinical presentation

-Acquired causes of deficiencies associated with thrombosis have been excluded (eg, vitamin K deficiency, oral anticoagulation with coumarin compounds, liver disease, intravascular coagulation and fibrinolysis/disseminated intravascular coagulation)

 

However, no screening test exists for detecting defects in a subset of genes on this panel, such as PROCR and THBD. If the thrombotic tendency is a concern, a set of clinical guidelines from the British Society for Haematology on testing for heritable thrombophilia is freely available.(1)

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Thrombosis Comprehensive Panel, NGS

Specimen Type

Varies

Specimen 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.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing 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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GNTHR Thrombosis Comprehensive Panel, NGS 105336-2

 

Result ID Test Result Name Result LOINC Value
619272 Test Description 62364-5
619273 Specimen 31208-2
619274 Source 31208-2
619275 Result Summary 50397-9
619276 Result 82939-0
619277 Interpretation 59465-5
619278 Additional Results 82939-0
619279 Resources 99622-3
619280 Additional Information 48767-8
619281 Method 85069-3
619282 Genes Analyzed 82939-0
619283 Disclaimer 62364-5
619284 Released By 18771-6

NY State Approved

Yes