Diseases (11)

Diagnostic Testing (10)


For evaluation of hypercoagulable states if history of recurrent deep vein thromboses.


R/O other causes of hypercoagulability.


Rule out CAD due to thrombosis.

Disease Management Testing (1)


Long term therapy selection and guidance.


Factor V Leiden is a common hereditary mutation that increases an individual’s risk of venous thromboembolic disease at an early age. Common diseases associated with factor V Leiden mutation include blood clots, deep vein thrombosis (DVT), and pulmonary embolisms (PE). It is the most common genetic cause of venous thrombosis with > 20% of cases involving the Factor V Leiden mutation. Within the general population, 3 - 7% of Caucasians and 1.2% of African-Americans carry the mutation.

The Factor V Leiden mutation is due to a single base-pair change (point mutation) in the gene for Factor V (sometimes referred to as the F5 gene). Technically, this amounts to a substitution of the nucleic acid adenine (A) for a normal guanine (G) at position 1691, which leads to an amino acid substitution of arginine (R) for a normal glutamine (Q) at position 506 within the protein. The normal function of Factor V is to serve as a cofactor in blood coagulation in conjunction with Factor X. Activated protein C (aPC) normally degrades Factor V to limit clotting. The mutation alters Factor V's protein's structure so that aPC can not degrade Factor V normally so that abnormal clotting is enhanced. Individuals may carry the mutation on one chromosome (heterozygous) or on both chromosomes (homozygous). Heterozygotes have a 7-fold increased risk of developing thrombosis, while individuals who are homozygous for the mutation have up to an 80-fold increased risk. For heterozygous patients using oral contraceptives, the risk of thrombosis increases to 30-fold.

The Factor V Leiden polymorphism should be evaluated in patients for whom testing is undertaken to identify risk factors associated with venothrombotic disease, including activated protein C resistance, and deficiencies of protein S, protein C, and antithrombin. The Factor V Leiden mutation is assessed in the laboratory using technologies that enable identification of the single base pair change. Results are reported as homozygous wild-type (no mutation detected), heterozygous (mutation detected on a single chromosome), and homozygous mutant (mutation detected on both chromosomes). Because this is a genetic test, this test only needs to be performed once in a patient’s lifetime.

Clinical Utility

  • Evaluation of thrombotic risk
  • Venous thromboembolism
  • Pulmonary embolism
  • Coronary artery disease, and/or stroke
  • Recurrent miscarriages
  • Venous thrombosis in women taking oral contraceptives or hormone replacement
  • Other thrombotic problems


Positive in:

  • Patients with family history of hypercoagulability secondary to Factor V Leiden mutation
  • Patients with history of recurrent miscarriages
  • Venous thrombosis
  • Stroke
  • Pulmonary embolism
  • Deep venous thrombosis
  • Heart attack and stroke

Individuals who are heterozygous for the Factor V Leiden mutation have a 5- to 10-fold increased risk of venous thrombosis, while homozygous individuals have a 50 to 100-fold increased risk of venous thrombosis.

Reference Ranges

No Mutation Detected (Negative for mutation analyzed)




PCR Allele specific primer extension, PCR with FRIET detection, Invader ™ Technology, chip array technology, Pyrosequencing.

Specimen Collection

Whole Blood EDTA (Lavender)


  • Ambient: 8 days
  • Refrigerated: 8 days

Additional Testing

Prothrombin Time (PT), Activated Partial Thromboplastin Time (APTT), Factor II (prothrombin) mutation, Methyltetrahydrofolate Reductase C677T and A1298C Mutation, Protein S, Protein C, Protein C Activity, and Anticardiolipin Antibody, Antiphospholipid antibody, Plasminogen Activator Inhibitor 1 (PAI-1) Mutation, Factor XIII, Mixing Studies, Platelet Antibody.

Turnaround Time

1-3 days.





D68.5Primary thrombophilia
D68.59Other primary thrombophilia
D68.6Other thrombophilia
D68.61Antiphospholipid syndrome
D68.62Lupus anticoagulant syndrome
D68.69Other thrombophilia
E72.12Methylenetetrahydrofolate reductase deficiency
G08Intracranial and intraspinal phlebitis and thrombophlebitis
G45.3Amaurosis fugax
G45.9Transient cerebral ischemic attack, unspecified
G46.4Cerebellar stroke syndrome
I20Angina pectoris
I20.0Unstable angina
I20.1Angina pectoris with documented spasm
I20.8Other forms of angina pectoris
I20.9Angina pectoris, unspecified
I24Other acute ischemic heart diseases
I24.8Other forms of acute ischemic heart disease
I25Chronic ischemic heart disease
I25.1Atherosclerotic heart disease of native coronary artery
I25.10Atherosclerotic heart disease of native coronary artery without angina pectoris
I25.11Atherosclerotic heart disease of native coronary artery with angina pectoris
I25.8Other forms of chronic ischemic heart disease
I25.9Chronic ischemic heart disease, unspecified
I26Pulmonary embolism
I26.0Pulmonary embolism with acute cor pulmonale
I26.01Septic pulmonary embolism with acute cor pulmonale
I27Other pulmonary heart diseases
I27.8Other specified pulmonary heart diseases
I27.82Chronic pulmonary embolism
I61Nontraumatic intracerebral hemorrhage
I61.9Nontraumatic intracerebral hemorrhage, unspecified
I62Other and unspecified nontraumatic intracranial hemorrhage
I62.0Nontraumatic subdural hemorrhage
I63Cerebral infarction
I63.0Cerebral infarction due to thrombosis of precerebral arteries
I63.00Cerebral infarction due to thrombosis of unspecified precerebral artery
I63.8Other cerebral infarction
I63.9Cerebral infarction, unspecified
I67Other cerebrovascular diseases
I67.1Cerebral aneurysm, nonruptured
I67.82Cerebral ischemia
I80Phlebitis and thrombophlebitis
I80.201Phlebitis and thrombophlebitis of unspecified deep vessels of right lower extremity
I80.202Phlebitis and thrombophlebitis of unspecified deep vessels of left lower extremity
I80.29Phlebitis and thrombophlebitis of other deep vessels of lower extremities
I80.293Phlebitis and thrombophlebitis of other deep vessels of lower extremity, bilateral
I82Other venous embolism and thrombosis
I82.0Budd-Chiari syndrome
I82.2Embolism and thrombosis of vena cava and other thoracic veins
I83Varicose veins of lower extremities
I87Other disorders of veins
N96Recurrent pregnancy loss
O02Other abnormal products of conception
O03Spontaneous abortion
O03.2Embolism following incomplete spontaneous abortion
O03.30Unspecified complication following incomplete spontaneous abortion
O03.37Sepsis following incomplete spontaneous abortion
O03.38Urinary tract infection following incomplete spontaneous abortion
O03.4Incomplete spontaneous abortion without complication
O04Complications following (induced) termination of pregnancy
O04.87Sepsis following (induced) termination of pregnancy
O04.89(Induced) termination of pregnancy with other complications
O43Placental disorders
O45Premature separation of placenta [abruptio placentae]
O45.8X1Other premature separation of placenta, first trimester
O45.8X2Other premature separation of placenta, second trimester
O45.8X3Other premature separation of placenta, third trimester
O45.91Premature separation of placenta, unspecified, first trimester
O45.92Premature separation of placenta, unspecified, second trimester
O45.93Premature separation of placenta, unspecified, third trimester
R07.1Chest pain on breathing
R42Dizziness and giddiness
Z03.72Encounter for suspected placental problem ruled out
Z13.7Encounter for screening for genetic and chromosomal anomalies
Z31.441Encounter for testing of male partner of patient with recurrent pregnancy loss
Z82.3Family history of stroke
Z86.69Personal history of other diseases of the nervous system and sense organs
Z86.711Personal history of pulmonary embolism
Z86.73Personal history of transient ischemic attack (TIA), and cerebral infarction without residual deficits