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EstroGenomic® Buccal Swab Profile - Genova Test Kit - NOT CURRENTLY AVAILABLE

The EstroGenomic Profile uses genomic testing to identify susceptibility to diseases and conditions such as breast cancer, osteoporosis, and heart disease.


Test Code: GD5002

Also Known As:


Specimen Type: Saliva

Preparation: No fasting required. Ship to lab Monday-Thursday only. Specimen must be collected immediately upon rising. The night before collection you may brush and floss teeth, but do not use mouthwash. On the morning of collection, do not eat, brush or floss your teeth, use mouthwash, chew gum or use any tobacco, or coffee products. You may drink ONLY water before specimen collection. Just prior to collection, wash hands completely with hand soap.

Test Results: 21 days once the lab receives the specimen. May take longer based on weather, holiday or lab delays.


Specifically, the EstroGenomic® Profile evaluates genetic variations, called single nucleotide polymorphisms (SNPs), in genes that modulate estrogen metabolism, coagulation, cardiovascular function, bone health, and inflammation.


The EstroGenomic® test uncovers potential genetic susceptibility to diseases and conditions such as:

  • Breast cancer
  • Osteoporosis
  • Thrombosis
  • Strokes
  • Atherosclerosis
  • Heart Disease


Specialized genomic testing from Genova Diagnostics can provide a glimpse into one's potential health future.


Genetic testing enables one to minimize the risk by:

  • Identifying hidden gene mutations that may promote chronic disease
  • Preventing disease through early intervention
  • Modifying gene expression through more precise, targeted, individualized interventions
  • Identifying key areas for follow-up testing
  • Monitoring therapeutic effectiveness of intervention strategies with laboratory testing


Whether or not you choose to see genes, they are always there and will continue to play an important role in one's health. With genomic testing, by choosing to look at them, you have the opportunity to influence the ultimate outcome and more actively promote a healthy life. The EstroGenomic® Profile evaluations include:


Estrogen Metabolism

  • CYP1A1
  • GST (M1 and P1)
  • CYP1B1
  • COMT (catechol-O-methyl transferase)


Estrogen metabolism SNPs focus on the Phase 1 enzymes involved in the formation of anti- or procarcinogenic metabolites such as 2-hydroxyestrone and 4-hydroxyestrone, respectively, as well as the Phase 2 enzymes responsible for the subsequent metabolism of these compounds. Levels of the various estrogen metabolites modulate risk of both breast cancer and osteoporosis.



  • GP3a (Glycoprotein 3)
  • Factor 2 (Prothrombin)
  • PAI-1 (Plasminogen activator inhibitor-1)
  • Factor 5 (Leiden)


These genetic variants focus on estrogens interaction with some of the key constituents of the clot formation and fibrinolysis process, such as clotting factors and inhibitors of fibrinolysis. The SNPs can over-activate blood clotting processes, increasing the risk of sudden cardiac events such as thrombosis, heart attacks, and strokes, especially among women take supplemental estrogens and oral contraceptives.



  • Apo E (apoliprotein E)
  • TNF-a
  • IL-6


These genes affect how the body processes cholesterol, responds to inflammation, and metabolizes B vitamins. The presence of these SNPs can increase risk of cardiovascular disease, hyperlipidemia, and blood vessel damage.



  • VDR
  • TNF-a
  • IL-6


Osteoporosis SNPs relate to estrogens influence on inflammation, bone resorption, vitamin D function and bone collagen formation.

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