Genetic risk of trombophilia (F2:20210 G/A; F5:1691 G/A; F7:10976 G/A; F13А1:c.103 G/T; FGB:-455 G/A; ITGA2:807 C/T; ITGB3:1565 T/C; PAI-1:-675 5G/4G, MTR:2756 A/G; MTRR:66 A/G; MTHFR:677 С/T и MTHFR:1298 А/C (11 genes))

The analysis includes simultaneous determination of changes in the main 10 genes (11 alleles) affecting blood clotting:

F2:20210 G/A;
F5:1691 G/A;
F7:10976 G/A;
F13A1

.103 G/T;
FGB:-455 G/A;
ITGA2:807 C/T;
ITGB3:1565 T/C;
PAI-1:-675 5G/4G,
MTR:2756 A/G;
MTRR:66 A/G;
MTHFR:677 С/T
MTHFR:1298 A/C

The result of this complex test should be interpreted by the attending physician taking into account the medical history, results of other genetic analysis, clinical manifestations and laboratory data. A different combination of mutations in the alleles of these genes affects the state of the blood. Thus, the combination of the c.103 G/T polymorphism (replacement of guanine with thymine at the 103 position) of the fibrinase gene F13A1 in homo- and heterozygous states increase the risks of bleeding. In the presence of risk alleles in the F5 (F5 polymorphism 1691 G/A) and F2 (F2 polymorphism 20210 G/A) genes, it partially compensates for the increased risks of thrombotic complications and risks of complications in the course of pregnancy. At the same time, the combination of polymorphism 10976 G/A of the F7 gene in the homo- and heterozygous state increases the risk of bleeding. In the presence of risk alleles in the F5 (F5 polymorphism 1691 G/A) and F2 (F2 polymorphism 20210 G/A) genes, it partially compensates for the increased risks of thrombotic complications and risks of complications in the course of pregnancy. And the presence of the risk allele of polymorphism 20210 G/A of the F2 gene further increases the risks of thrombosis and thromboembolism. In combination with the presence of polymorphisms 10976 G/A of the F7 gene and c.103 G/T of the fibrinase gene F13A1, the risks of thrombotic complications are reduced but remain higher than the population average.

If available:

Hyperhomocysteinemia,
Cardiovascular diseases (ischemic heart disease, ischemic stroke, arterial hypertension, atherosclerosis, thrombosis),
Preeclampsia,
Thromboembolic complications during pregnancy,
Habitual miscarriage of pregnancy,
Congenital malformations of the fetus (isolated defects of the neural tube in the fetus, cleft upper lip and palate), chromosomal abnormalities of the fetus,
Migraines, depression, insomnia, chronic fatigue syndrome, headaches, memory loss,
History of thrombosis and thromboembolism,
History of ischemic stroke,
Taking oral contraceptives and hormone replacement therapy.

The F2 gene (G20210A)

The G/G genotype is not associated with the risk of developing diseases.
G/A is a genotype predisposing to increased blood clotting, in a heterozygous form.
A/A is a genotype predisposing to increased blood clotting, in a homozygous form.

The F5 gene(G1691A)

The G/G genotype is not associated with the risk of developing diseases.
G/A is a genotype predisposing to increased blood clotting, in a heterozygous form.
A/A is a genotype predisposing to increased blood clotting, in a homozygous form.

The F7 gene (G10976A)

The G/G genotype is not associated with a change in the activity of the F7 protein.
G/A is a genotype predisposing to a moderate decrease in the activity of the F7 protein.
A/A is a genotype predisposing to a significant decrease in the activity of the F7 protein.

The F13A1 (G103T) gene

The G/G genotype is not associated with a change in the activity of the F13 protein.
G/T is a genotype predisposing to a moderate decrease in the activity of the F13 protein.
T/T is a genotype predisposing to a significant decrease in the activity of the F13 protein.

ITGA2 gene(C807T)

The C/C genotype is not associated with a change in platelet adhesion rate.
C/T is a genotype predisposing to an increase in the rate of platelet adhesion, compared with the C/C genotype.
T/T is a genotype predisposing to an increase in the rate of platelet adhesion, compared with the C/C and C/T genotypes.

ITGB3 gene (T1565C)

The T/T genotype is not associated with a change in platelet aggregation capacity.
T/C is a genotype predisposing to a moderate increase in platelet aggregation capacity.
C/C is a genotype predisposing to high platelet aggregation capacity.

SERPINE1 gene(5G(-675)4G)

The 5G/5G genotype is not associated with a change in the level of plasminogen activator inhibitor – 1.
5G/4G is a genotype predisposing to an intermediate level of plasminogen activator inhibitor – 1.
4G/4G is a genotype predisposing to an increase in the level of plasminogen activator inhibitor – 1.

The MTHFR gene (1298 A/C):

The A/A genotype is not associated with a change in enzyme activity.
A/C is a genotype predisposing to a decrease in enzyme activity in combination with 677T and 1298C.
C/C is a genotype predisposing to a decrease in enzyme activity.

The MTHFR gene (C677T)

The C/C genotype is not associated with a change in enzyme activity.
C/T is a genotype predisposing to a decrease in enzyme activity in combination with 677T and 1298C.
T/T is a genotype predisposing to a decrease in enzyme activity.

The MTR gene(2756 A/G)

The A/A genotype is not associated with a change in enzyme activity.
A/G is a genotype predisposing to a decrease in enzyme activity in combination with 2756G and 66G (MTRR).
G/G is a genotype predisposing to a decrease in enzyme activity.

The MTRR gene (66 A/G)

The A/A genotype is not associated with a change in enzyme activity.
A/G is a genotype predisposing to a decrease in enzyme activity in combination with the heterozygous allele 66G and 2756G (MTR).
G/G is a genotype predisposing to a decrease in enzyme activity.