Test Catalog

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

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.

Specimen Type Describes the specimen type validated for testing


Advisory Information

Routine genetic testing of THBD for either a thrombotic or bleeding tendency is not recommended and may be of limited use in the vast majority of cases.

Shipping Instructions

Ambient and refrigerated specimens must arrive within 7 days (168 hours of draw), and frozen specimens must arrive within 14 days (336 hours of draw). Collect and package specimen as close to shipping time as possible.

Necessary Information

Rare Coagulation Disorder Patient Information is required, see Special Instructions. 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 Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Submit only 1 of the following specimens:


Specimen Type: Peripheral blood


Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD) or green top (sodium citrate)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability: Ambient (preferred)/Refrigerate/Frozen


Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of the DNA.

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA and source of specimen.

2. Provide indication of volume and concentration of the DNA.

Specimen Stability: Frozen (preferred)/Refrigerate/Ambient

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


1. Rare Coagulation Disorder Patient Information (T824) is required, see Special Instructions. Fax the completed form to 507-284-1759.

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

3. If not ordering electronically, complete, print, and send a Coagulation Test Request (T753) with the specimen.

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood: 1 mL
Extracted DNA: 100 mcL at 50 ng/mcL concentration

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis OK
Gross lipemia OK

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTimeSpecial Container
VariesAmbient (preferred)7 days
 Frozen 14 days
 Refrigerated 7 days