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Test Code THBNG THBD Gene, Next-Generation Sequencing, Varies


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


Submit only 1 of the following specimens:

 

Specimen Type: Peripheral blood

Container/Tube:

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


Forms

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.

Useful For

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

Testing Algorithm

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.

Method Name

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

Reporting Name

THBD Gene, Full Gene NGS

Specimen Type

Varies

Specimen Minimum Volume

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

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred) 7 days
  Frozen  14 days
  Refrigerated  7 days

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, Varies

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. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
THBNG THBD Gene, Full Gene NGS 92995-0

 

Result ID Test Result Name Result LOINC Value
113108 THBNG Result 50397-9
113102 Alterations Detected 82939-0
113101 Interpretation 69047-9
113103 Additional Information 48767-8
113104 Method 85069-3
113105 Disclaimer 62364-5
113106 Panel Gene List 48018-6
113107 Reviewed By 18771-6