Genetic Testing

Heart Health & Cardiovascular, Genetic Testing

Elevated concentrations of Lp(a) are associated with increased risk of coronary artery disease.

Blood Disorders, Genetic Testing

This is a screening test to determine the presence of sickling hemoglobins. (e.g. hemoglobin-s, hemoglobin c-Harlem). It is important to detect Hb-S in order to determine which individuals are at risk of crisis when exposed to prolonged anoxia such as may occur during surgery, athletic programs or high altitude conditions.

Genetic Testing, Blood Disorders

Acute attacks of acute intermittent porphyria are precipitated by drugs, including barbiturates, hydantoins, hormones, infection, and diet. The most common symptom of acute intermittent porphyria is abdominal pain. The most common sign is tachycardia.1Subjects with the porphyrias may pass urine the color of port wine. The term porphyria derives from the Greek “porphyria,” an expression for the color purple.1Quantitative porphobilinogen will pick up many but not all patients with acute intermittent porphyria in the latent period.

Genetic Testing, Blood Disorders

Offered as part of multiple lab tests

Genetic Testing, Heart Health & Cardiovascular

Offered as part of multiple lab tests

Genetic Testing, Mental Health & Neurological

Offered as part of multiple lab tests

Genetic Testing, Heart Health & Cardiovascular

Venous thromboembolism is a multifactorial disease influenced by genetic, environmental, and circumstantial risk factors. The c.1601G>A (p. Arg534Gln) variant in the F5 gene, commonly referred to as Factor V Leiden, is a genetic risk factor for venous thromboembolism. Heterozygous carriers of this variant have a 6- to 8-fold increased risk for venous thromboembolism. Individuals homozygous for this variant (ie, they have a copy of the variant on each chromosome) have an approximately 80-fold increased risk for venous thromboembolism. Individuals who carry both a *97G>A variant in the F2 gene and Factor V Leiden have an approximately 20-fold increased risk for venous thromboembolism. Risks are likely to be even higher in more complex genotype combinations involving theF2c.*97G>A variant and Factor V Leiden.1Additional risk factors include but are not limited to: deficiency of protein C, protein S, or antithrombin III, age, male sex, personal or family history of deep vein thromboembolism, smoking, surgery, prolonged immobilization, malignant neoplasm, tamoxifen treatment, raloxifene treatment, oral contraceptive use, hormone replacement therapy, and pregnancy. Management of thrombotic risk and thrombotic events should follow established guidelines and fit the clinical circumstance. This result cannot predict the occurrence or recurrence of a thrombotic event.Genetic coordinators are available for health care providers to discuss results and for information on how to order additional testing, if desired, at 1-800-345-GENE.

Genetic Testing, Nutrition & Vitamins

Offered as part of multiple lab tests

Genetic Testing, Nutrition & Vitamins

Offered as part of multiple lab tests

Genetic Testing, Heart Health & Cardiovascular

Hyperhomocysteinemia is multifactorial, involving genetic, clinical, and environmental risk factors. Reduced enzyme activity of methylenetetrahydrofolate reductase (MTHFR) is a genetic risk factor for hyperhomocysteinemia, particularly when serum folate levels are low. There are two common variants in the MTHFR gene that can decrease enzyme activity: c.665C>T (p. Ala222Val), legacy name C677T, and c.1286A>C (p. Glu429Ala), legacy name A1298C. These variants do not independently increase risk of conditions related to hyperhomocysteinemia in the absence of elevated homocysteine levels. Measurement of total plasma homocysteine is recommended. Patients should share their MTHFR genotype with physicians who are making decisions regarding chemotherapy treatments that depend on folate, such as methotrexate. Guidelines do not recommend genotyping of these two MTHFR variants in the evaluation of venous thromboembolism or obstetric risk due to limited evidence of clinical utility. Genetic coordinators are available for health care providers to discuss results and for information on how to order additional testing, if desired, at 1-800-345-GENE.

Genetic Testing, Heart Health & Cardiovascular

Hyperhomocysteinemia is multifactorial, involving genetic, clinical, and environmental risk factors. Reduced enzyme activity of methylenetetrahydrofolate reductase (MTHFR) is a genetic risk factor for hyperhomocysteinemia, particularly when serum folate levels are low. There are two common variants in the MTHFR gene that can decrease enzyme activity: c.665C>T (p. Ala222Val), legacy name C677T, and c.1286A>C (p. Glu429Ala), legacy name A1298C. These variants do not independently increase risk of conditions related to hyperhomocysteinemia in the absence of elevated homocysteine levels. Measurement of total plasma homocysteine is recommended. Patients should share their MTHFR genotype with physicians who are making decisions regarding chemotherapy treatments that depend on folate, such as methotrexate. Guidelines do not recommend genotyping of these two MTHFR variants in the evaluation of venous thromboembolism or obstetric risk due to limited evidence of clinical utility. Genetic coordinators are available for health care providers to discuss results and for information on how to order additional testing, if desired, at 1-800-345-GENE.

Genetic Testing, Heart Health & Cardiovascular

Hyperhomocysteinemia is multifactorial, involving genetic, clinical, and environmental risk factors. Reduced enzyme activity of methylenetetrahydrofolate reductase (MTHFR) is a genetic risk factor for hyperhomocysteinemia, particularly when serum folate levels are low. There are two common variants in the MTHFR gene that can decrease enzyme activity: c.665C>T (p. Ala222Val), legacy name C677T, and c.1286A>C (p. Glu429Ala), legacy name A1298C. These variants do not independently increase risk of conditions related to hyperhomocysteinemia in the absence of elevated homocysteine levels. Measurement of total plasma homocysteine is recommended. Patients should share their MTHFR genotype with physicians who are making decisions regarding chemotherapy treatments that depend on folate, such as methotrexate. Guidelines do not recommend genotyping of these two MTHFR variants in the evaluation of venous thromboembolism or obstetric risk due to limited evidence of clinical utility. Genetic coordinators are available for health care providers to discuss results and for information on how to order additional testing, if desired, at 1-800-345-GENE.

Genetic Testing, Nutrition & Vitamins

Offered as part of multiple lab tests

Heart Health & Cardiovascular, Genetic Testing

This test determines the subtypes of APOE which will aid in the risk assessment of Coronary Heart Disease (CHD) and Hyperlipoproteinemia.

Genetic Testing, Liver & Kidney Health

Hereditary hemochromatosis (HFE related) is an autosomal recessive iron storage disorder. Patients may have a genetic diagnosis of hereditary hemochromatosis and never show clinical symptoms. Clinical symptoms typically appear between 40 to 60 years in males and after menopause in females. Signs and symptoms may include organ damage, primarily in the liver, risk for hepatocellular carcinoma, diabetes, and heart disease due to iron accumulation. Life expectancy may be decreased in individuals who develop cirrhosis. Treatment for clinically symptomatic individuals may include therapeutic phlebotomy. Liver transplant may be used to treat end stage liver failure. For preventive care, monitoring for iron overload is recommended for patients who are homozygous for c.845G>A (p.Cys282Tyr) and have yet to experience clinical symptoms. The most common HFE variants associated with hereditary hemochromatosis are c.845G>A (p. Cys282Tyr), c.187C>G (p.His63Asp), c.193A>T (p. Ser65Cys). While patients homozygous for c.845G>A (p.Cys282Tyr) are the most likely to present clinical symptoms, less than 10% develop clinically significant iron overload with tissue and organ damage. Genetic coordinators are available for health care providers to discuss results and for information on how to order additional testing, if desired, at 1-800-345-GENE.

Genetic Testing, Heart Health & Cardiovascular

Type III hyperlipoproteinemia (broad β disease) is a familial dyslipidemia characterized by the combination of elevated serum cholesterol and triglycerides and the presence of the apolipoprotein E (Apo E) genotype E2/E2. Type III hyperlipoproteinemia has an incidence of 1/2,000−1/10,000. This lipid disorder is associated with a high risk of coronary heart disease and peripheral vascular disease. Onset of type III hyperlipoproteinemia is generally in adulthood but varies from late teens to old age. Before vascular disease develops there are usually no symptoms, and most patients with type III hyperlipoproteinemia are identified only from elevated serum cholesterol and triglycerides discovered during a routine screen. Symptoms include angina, heart attack, claudication, and leg pain. In untreated patients, xanthomas (fat deposits) are occasionally seen (flat in palmar creases or tuberous in joints).The E2 variant of apolipoprotein E is defective in binding to receptors that normally clear harmful lipid particles called B-VLDL from the circulation. One percent of the general population has the E2/E2 genotype, and development of the frank lipid disorder occurs in 1% to 5% of these predisposed individuals, triggered by secondary genetic, hormonal or environmental factors. Ninety-five percent of patients with type III hyperlipoproteinemia are homozygous for E2. Demonstration of the E2/E2 genotype is essential for diagnosis of type III hyperlipoproteinemia.Distinguishing this disorder from other causes of elevated cholesterol is important because effective treatment of type III hyperlipoproteinemia to prevent atherosclerosis often requires a different approach than treatment of other dyslipidemias.

Genetic Testing, Heart Health & Cardiovascular

Type III hyperlipoproteinemia (broad β disease) is a familial dyslipidemia characterized by the combination of elevated serum cholesterol and triglycerides and the presence of the apolipoprotein E (Apo E) genotype E2/E2. Type III hyperlipoproteinemia has an incidence of 1/2,000−1/10,000. This lipid disorder is associated with a high risk of coronary heart disease and peripheral vascular disease. Onset of type III hyperlipoproteinemia is generally in adulthood but varies from late teens to old age. Before vascular disease develops there are usually no symptoms, and most patients with type III hyperlipoproteinemia are identified only from elevated serum cholesterol and triglycerides discovered during a routine screen. Symptoms include angina, heart attack, claudication, and leg pain. In untreated patients, xanthomas (fat deposits) are occasionally seen (flat in palmar creases or tuberous in joints).The E2 variant of apolipoprotein E is defective in binding to receptors that normally clear harmful lipid particles called B-VLDL from the circulation. One percent of the general population has the E2/E2 genotype, and development of the frank lipid disorder occurs in 1% to 5% of these predisposed individuals, triggered by secondary genetic, hormonal or environmental factors. Ninety-five percent of patients with type III hyperlipoproteinemia are homozygous for E2. Demonstration of the E2/E2 genotype is essential for diagnosis of type III hyperlipoproteinemia.Distinguishing this disorder from other causes of elevated cholesterol is important because effective treatment of type III hyperlipoproteinemia to prevent atherosclerosis often requires a different approach than treatment of other dyslipidemias.

Genetic Testing, Mental Health & Neurological

Offered as part of multiple lab tests

Genetic Testing, Blood Disorders

Refer to individual assays for additional information.

Genetic Testing

Offered as part of multiple lab tests

Genetic Testing, Liver & Kidney Health

Offered as part of multiple lab tests

Genetic Testing, Blood Disorders

Offered as part of multiple lab tests

Genetic Testing, Nutrition & Vitamins

Offered as part of multiple lab tests

Genetic Testing, Mental Health & Neurological

Offered as part of multiple lab tests

Genetic Testing, Heart Health & Cardiovascular

Deep vein thrombosis (DVT) and coronary artery disease (CAD) are associated with increased PAI-1 levels. Elevated PAI-1 levels may help predict risk of reinfarction in survivors of myocardial infarction, particularly in young individuals. PAI-1 levels tend to be lower in individuals with 4G/5G or 5G/5G genotype compared to a 4G/4G genotype.

Genetic Testing, Heart Health & Cardiovascular

Deep vein thrombosis (DVT) and coronary artery disease (CAD) are associated with increased PAI-1 levels. Elevated PAI-1 levels may help predict risk of reinfarction in survivors of myocardial infarction, particularly in young individuals. PAI-1 levels tend to be lower in individuals with 4G/5G or 5G/5G genotype compared to a 4G/4G genotype.

Genetic Testing, Bone Health

Offered as part of multiple lab tests