Test Catalog

Test ID: THBNG    
THBD Gene, Next-Generation Sequencing, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Ascertaining a pathogenic alteration in the THBD gene in patients with atypical hemolytic uremic syndrome


Ascertaining a pathogenic alteration in the THBD gene in patients with reduced thrombin generation and a strong family or personal history of excessive bleeding that is not explained by results of conventional and specialized coagulation testing


This test is not intended for prenatal diagnosis

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test detects alterations in the THBD gene, which have been associated with one of several clinical phenotypes and hereditary disorders, namely an increased risk for thrombosis, atypical hemolytic uremic syndrome (aHUS), and hereditary excessive bleeding following physical trauma or surgery. A genetic consultation is strongly recommended prior to ordering THBD sequencing.


The gene target for this test is:

Gene name (transcript): THBD (GRCh37 (hg19) NM_000361)

Chromosomal location: 20p11.21

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

No screening tests exist for defects in THBD.


If 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)


If atypical hemolytic uremic syndrome (aHUS) is a concern, it is strongly recommended an etiological diagnosis of aHUS be attempted prior to genetic testing in order to focus on timely and informed treatment of the patient. Refer to the consensus statement on the identification and diagnosis of thrombotic microangiopathies by the Mayo Clinic Complement Alternative Pathway-Thrombotic Microangiopathy Disease-Oriented Group.(2) Additionally, a recommended list of laboratory investigations for patients identified as having aHUS has been developed by The European Paediatric Study Group.(3)


If a THBD-related bleeding disorder is a concern, this disorder has only been recently characterized and no algorithmic testing methodology has been developed that is specific to this disorder. A systematic diagnosis through conventional coagulation testing is recommended prior to considering genetic testing for any suspected bleeding disorder.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when Appropriate

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

THBD Gene, Full Gene NGS

Aliases Lists additional common names for a test, as an aid in searching