Analysis of Polymorphisms

Genetics of Hormonal Balance

Hormonal balance depends on hormone levels, receptor sensitivity, and the activity of enzymes involved in hormone synthesis, conversion, and elimination. These processes largely determine how tissues respond to hormonal signals and how strongly hormones exert their effects. Genetic testing helps assess the metabolism of androgens, oestrogens, and progesterone, the sensitivity of their respective receptors, responsiveness to vitamin D, and omega-3 fatty acid metabolism. The results complement standard hormone tests and help the doctor interpret the patient’s hormonal profile more precisely.

Genetic Profile of Hormone Metabolism

Polymorphism analysis helps assess hereditary characteristics that may influence steroid hormone metabolism and the body’s sensitivity to their effects. The study examines genes associated with receptors and enzymes involved in the metabolism of androgens, oestrogens, and progesterone. A polymorphism test complements standard laboratory diagnostics and provides the doctor with additional information for a more precise interpretation of the patient’s hormonal profile. Genetics of hormonal balance can provide valuable insights when assessing potential factors contributing to hormonal disorders and developing an individual clinical strategy.

A genetic hormone test only needs to be performed once, as the hereditary characteristics assessed remain unchanged throughout life.

Androgen metabolism and androgen receptor sensitivity.

Oestrogen metabolism and oestrogen receptor sensitivity.

Tissue sensitivity to progesterone.

Individual responsiveness to vitamin D.

Omega-3 fatty acid metabolism.

Hereditary factors involved in hormonal regulation.

Potential individual differences in response to hormone therapy.

Changes in sex hormone levels identified through laboratory testing.

Acne, seborrhoea, and increased skin oiliness.

Excessive male-pattern hair growth in women.

Menstrual cycle irregularities.

Polycystic ovary syndrome.

Insulin resistance and lipid metabolism disorders.

Excess body weight and difficulty with weight management.

Oestrogen-dependent conditions.

Reproductive disorders in women and men.

Planning or undergoing hormone therapy.

Developing an individual strategy for vitamin D and omega-3 fatty acid supplementation.

Programme Components

The panel includes genes involved in different stages of hormonal regulation. They are associated with tissue sensitivity to sex hormones, as well as hormone synthesis, conversion, transport, and inactivation. Specific genes also provide insight into hereditary characteristics of vitamin D, omega-3 fatty acid, and provitamin A metabolism.

AR Gene

Associated with the androgen receptor, through which testosterone and other androgens exert their effects on tissues.
Helps assess: individual sensitivity to androgens and a predisposition to more or less pronounced androgenic effects.

COMT Gene

Involved in the metabolism and inactivation of certain forms of oestrogen.
Helps assess: individual characteristics of oestrogen metabolism.

ESR1 Gene

Associated with the oestrogen receptor alpha, which mediates a significant proportion of oestrogen effects in the body.
Helps assess: tissue sensitivity to oestrogens.

ESR2 Gene

Associated with the oestrogen receptor beta and involved in how tissues respond to oestrogen signalling.
Helps assess: individual tissue response to oestrogens.

PPARG Gene

Involved in the regulation of fat and carbohydrate metabolism and influences how the body utilises fatty acids.
Helps assess: individual characteristics of metabolic regulation and fatty acid metabolism.=

SRD5A2 Gene

Associated with the enzyme that converts testosterone into dihydrotestosterone, a more potent androgen.
Helps assess: individual characteristics of dihydrotestosterone production and androgen metabolism.

VDR Gene

Associated with the vitamin D receptor, through which cells respond to the effects of vitamin D.
Helps assess: individual sensitivity to vitamin D.

SHBG Gene

Associated with the protein that transports sex hormones in the blood and influences the amount of their biologically available forms.
Helps assess: hereditary characteristics of sex hormone transport and their availability to tissues.

PGR Gene

Associated with the progesterone receptor.
Helps assess: individual tissue sensitivity to progesterone.

CYP19A1 Gene

Associated with aromatase, an enzyme involved in the conversion of androgens into oestrogens.
Helps assess: hereditary characteristics of oestrogen production and aromatase activity.

CYP27B1 Gene

Involved in the formation of the active form of vitamin D.
Helps assess: individual characteristics of vitamin D activation in the body.

FADS2 Gene

Involved in the conversion of polyunsaturated fatty acids.
Helps assess: individual characteristics of omega-3 metabolism and the formation of long-chain polyunsaturated fatty acids.

BCO1 Gene

Involved in the conversion of beta-carotene into vitamin A compounds.
Helps assess: hereditary characteristics of beta-carotene conversion and provitamin A metabolism.

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Analysis of Polymorphisms