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Test ID AATHR Thrombophilia Profile, Plasma and Whole Blood


Ordering Guidance


Multiple coagulation profile tests are available. See Coagulation Profile Comparison in Special Instructions for testing that is performed with each profile.



Shipping Instructions


Send all specimens in the same shipping container.



Specimen Required


Both blood and plasma are required.

 

Patient Preparation:

1. Patient should not be receiving Coumadin (warfarin), heparin, direct thrombin inhibitors (argatroban, dabigatran), or direct factor Xa inhibitors (apixaban, rivaroxaban, and edoxaban).

2. Specimen must be collected prior to initiation of anticoagulants and thrombolytic therapy.

3. If patient has been recently transfused, it is best to perform this study pretransfusion, if possible.

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD), light-blue top (3.2% sodium citrate)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

3. Label specimen as whole blood.

 

Specimen Type: Platelet-poor plasma

Collection Container/Tube: Light-blue top (3.2% sodium citrate)

Submission Container/Tube: Plastic vial (polypropylene preferred)

Specimen Volume: 5 mL in 5 plastic vials; each containing 1 mL

Collection Instructions:

1. Specimen must be collected prior to factor replacement therapy.

2. For complete instructions, see Coagulation Guidelines for Specimen Handling and Processing in Special Instructions.

3. Centrifuge, transfer all plasma into a plastic vial, and centrifuge plasma again.

4. Aliquot plasma (1-2 mL per aliquot) into 5 separate plastic vials leaving 0.25 mL in the bottom of centrifuged vial.

5. Freeze plasma immediately (no longer than 4 hours after collection) at -20° C or, ideally, ≤-40° C.

Additional Information:

1. Double-centrifuged specimen is critical for accurate results as platelet contamination may cause spurious results.

2. If priority specimen, mark request form, give reason, and request a call-back.


Forms

1. 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)

2. Coagulation Patient Information (T675) in Special Instructions

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

Useful For

Evaluating patients with thrombosis or hypercoagulability states

 

Detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular coagulation/intravascular coagulation and fibrinolysis

 

Detecting a deficiency of antithrombin, protein C, or protein S

 

Detecting activated protein C resistance (and the factor V Leiden [p.Arg534Gln, historically known as R506Q] variant if indicated)

 

Detecting the prothrombin F2 c.*97G>A variant (historically known as G20210A)

Profile Information

Test ID Reporting Name Available Separately Always Performed
AATHI Thrombophilia Interpretation No Yes
PTSC Prothrombin Time (PT), P Yes, (order PTTP) Yes
APTSC Activated Partial Thrombopl Time, P Yes, (order APTTP) Yes
DRV1 Dilute Russells Viper Venom Time, P Yes, (order DRVI1) Yes
TTSC Thrombin Time (Bovine), P Yes Yes
CLFIB Fibrinogen, Clauss, P Yes, (order FIBTP) Yes
DIMER D-Dimer, P Yes, (order DDITT) Yes
ATTF Antithrombin Activity, P Yes Yes
CFX Protein C Activity, P Yes Yes
PSF Protein S Ag, Free, P Yes, (order PSTF) Yes
APCRV Activated Protein Resistance V, P Yes Yes
PTNT Prothrombin G20210A Mutation, B Yes Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
ATTI Antithrombin Antigen, P Yes No
FACTV Coag Factor V Assay, P Yes No
F_7 Coag Factor VII Assay, P Yes No
F_9 Coag Factor IX Assay, P Yes No
F_10 Coag Factor X Assay, P Yes No
F_11 Coag Factor XI Assay, P Yes No
F_12 Coag Factor XII Assay, P Yes No
F8A Coag Factor VIII Activity Assay, P Yes No
RTSC Reptilase Time, P Yes No
F_2 Coag Factor II Assay, P Yes No
PCAG Protein C Ag, P Yes No
F5DNA Factor V Leiden (R506Q) Mutation, B Yes No
PNP Platelet Neutralization Procedure No No
PTMSC PT Mix 1:1 No No
APMSC APTT Mix 1:1 No No
PST Protein S Ag, Total, P No No
STACL Staclot LA, P No No
DRV2 DRVVT Mix No No
DRV3 DRVVT Confirmation No No
S_FX Protein S Activity, P Yes No
SOLFM Soluble Fibrin Monomer No No
PTFIB PT-Fibrinogen, P No No

Testing Algorithm

Initial testing includes: prothrombin time (PT); activated partial thromboplastin time (aPTT); dilute Russell viper venom time (dRVVT); thrombin time (bovine); fibrinogen; D-dimer; antithrombin activity; protein C activity; protein S antigen, free;  prothrombin G20210A variant; activated protein resistance V; and thrombophilia interpretation.

 

If the PT is >13.9 seconds, then the PT mixing study will be performed at an additional charge.

 

If the aPTT is ≥38 seconds, then the aPTT mixing study will be performed at an additional charge.

 

If the aPTT mix result is ≥38 seconds and thrombin time is <35.0 seconds (no evidence of heparin), then the platelet neutralization procedure will be performed at an additional charge.

 

If the dRVVT ratio is ≥1.20, then the dRVVT mixing study and dRVVT confirmation will be performed at an additional charge.

 

If the thrombin time is ≥25.0 seconds, then the reptilase time will be performed at an additional charge.

 

If the fibrinogen result is <150 mg/dL or clinically indicated, then PT-fibrinogen will be performed at an additional charge.

 

If the D-dimer result is >500 ng/mL fibrinogen equivalent units (FEU), then soluble fibrin monomer testing will be performed at an additional charge.

 

If the free protein S antigen result is <65% for males and females ≥50 years of age and <50% for females <50 years of age, then the total protein S antigen test will be performed at an additional charge.

 

If the protein C activity is <70% with no evidence for an acquired decrease in protein C activity, then protein C antigen testing may be performed at an additional charge.

 

If the antithrombin activity is <80% with no evidence of an acquired decrease in antithrombin activity, then antithrombin antigen testing will be performed at an additional charge.

 

If the activated protein C resistance (APC) ratio is <2.3 or the baseline APC aPTT is prolonged, then factor V Leiden (R506Q) variant analysis will be performed at an additional charge.

 

If appropriate, protein S activity, coagulation factor assays, or Staclot LA will be performed at an additional charge to clarify significant abnormalities in the screen test results.

 

See Thrombophilia Profile in Special Instructions.

Method Name

PTSC, APTSC, DRV1, TTSC, APCRV: Optical Clot-Based

CLFIB: Clauss

DIMER, PSF: Latex Immunoassay (LIA)

ATTF, CFX: Chromogenic Assay

PTNT: Direct Mutation Analysis

Reporting Name

Thrombophilia Prof

Specimen Type

Plasma Na Cit
Whole blood

Specimen Minimum Volume

Plasma: 5 mL in 5 plastic vials each containing 1 mL
Whole Blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Na Cit Frozen 14 days
Whole blood Ambient (preferred) 14 days
  Frozen  14 days
  Refrigerated  14 days

Reference Values

An interpretive report will be provided.

Day(s) Performed

PTSC, APTSC, DRV1, CLFIB, DIMER, CFX, PSF, APCRV: Monday through Friday

TTSC, ATTF: Monday through Saturday

PTNT: Weekly

Report Available

4 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

See Individual Test IDs

CPT Code Information

81240-F2 (prothrombin, coagulation factor II) (eg, hereditary hypercoagulability) gene analysis, 20210G->A variant

85300-AT activity

85303-Protein C activity

85306-Protein S antigen, free

85307-Activated protein resistance V

85379-D-Dimer

85384-Fibrinogen

85390-26-Special coagulation interpretation

85610-PT

85613-DRVVT

85670-Thrombin time

85730-APTT

81241-F5 (coagulation factor V) (eg, hereditary hypercoagulability) gene analysis, Leiden variant (if appropriate)

85210-Factor II (if appropriate)

85220-Factor V (if appropriate)

85230-Factor VII (if appropriate)

85240-Factor VIII (if appropriate)

85250-Factor IX (if appropriate)

85260-Factor X (if appropriate)

85270-Factor XI (if appropriate)

85280-Factor XII (if appropriate)

85301-Antithrombin antigen (if appropriate)

85302-Protein C antigen (if appropriate)

85305-Protein S antigen, total (if appropriate)

85306-Protein S activity (if appropriate)

85366-Soluble fibrin monomer (if appropriate)

85385-PT-Fibrinogen (if appropriate)

85597-Platelet neutralization for lupus inhibitor (if appropriate)

85598-Staclot LA (if appropriate)

85611-PT mix 1:1 (if appropriate)

85613-DRVVT mix (if appropriate)

85613-DRVVT confirmation (if appropriate)

85635-Reptilase time (if appropriate)

85732-APTT mix 1:1 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AATHR Thrombophilia Prof Not Provided

 

Result ID Test Result Name Result LOINC Value
CLFIB Fibrinogen, Clauss, P 48664-7
603184 Thrombophilia Interpretation 69049-5
603325 Reviewed by 18771-6
RVR1 DRVVT Screen Ratio 15359-3
21803 Prothrombin G20210A Mutation, B 24475-6
APTSC Activated Partial Thrombopl Time, P 14979-9
PTSEC Prothrombin Time (PT), P 5902-2
TTSC Thrombin Time (Bovine), P 46717-5
DIMER D-Dimer, P 48067-3
ATTF Antithrombin Activity, P 27811-9
CFX Protein C Activity, P 27818-4
PSF Protein S Ag, Free, P 27821-8
APCR APCRV Ratio 13590-5
INT55 Interpretation 48591-2
INRSC INR 6301-6
21804 PTNT Interpretation 69049-5
21806 PTNT Reviewed By 18771-6

NY State Approved

Yes