Thiopurine drugs such as azotioprin (AZA), 6-merkaptopurine (6-MP) and 6-thioguanine (6-TG) are widely used in treatment of Acute Lymphoblastic Leucemia (ALL), autoimmune diseases, inflammatory bowel disease and posttransplant organ treatment. In the patients with high thipurine methyltransferase enzyme activity due to genetic factors and/or drug-drug interaction, there is a high risk of toxicity when thiopurine drugs are administered. TPMT enzyme deficiency is an autosomal dominant disease. Molecular genetic basis of TPMT polymorphism is not well known. To date, more than 10 allelic variants of TPMT has reported. In the patients with a decrease in TPMT activity, three main TPMT variants (TPMT-3A, TPMT-3B, TPMT-3C) are observed. These variant alleles caused by point mutations on exons or mutations on intron-exon boundaries.

TPMT Mutation Detection Kit, is a molecular diagnostic analysis based kit developed to investigate c.238G>C / c.460G>A / c.719A>G variants in the DNA molecules isolated from blood or tissue. To investigate these variants, a single nucleotide sequencing method is used and the test is performed by a PCR reaction that is realized in two tubes.

USAGE AREAS

Susceptibility to thrombosis is a condition commonly observed in the community and may lead to very different clinical eventualities.

The investigation of variants in genes that are known to be involved in various biological pathways and cause susceptibility to thrombosis are highly important for the genetic determination of susceptibility to thrombosis.

The most commonly used variants in thrombosis susceptibility are variants of FV Leiden (c.1691G> A), Prothrombin (FII) (g.20210G> A), and MTHFR (c677C> T). The region of the G1619A mutation that is known to be responsible for the formation of Factor V Leiden is one of the three cut-off points at which Active Protein C (APC) break downs Factor Va. Because of the mutation, resistance against APC develops, and Factor V Leiden breaks down at just one tenth of the rate of Factor Va and remains longer in the circulation. While the risk of vein thrombosis is slightly higher in those who carry the mutation as heterozygous, the risk of thrombosis in those who carry the mutation as homozygous has increased significantly (up to 20-fold). There is an increased risk of arterial and vein thrombosis, especially in those who carry the variant of Prothrombin (FII) (g.20210G> A) variant as homozygous. This variant has also been demonstrated to be associated with fetal losses. The enzyme in those who carry the T-alleles instead of A is in 677th position in the MTHFR (c. 677C> T). The methylenetetrahydrofolate reductive (MTHFR) gene is more thermolabile and less active. This causes the folate concentration in the plasma to drop and increase in the homocysteine concentration. It is known that the increase in homocysteine concentration may cause susceptibility to thromboembolism and atherosclerosis.

ThromboX3® MUTATION DETECTION KIT is a molecular diagnostic kit developed to investigate variants of FV Leiden (c.1691G> A), Prothrombin (FII) (g.20210G> A), MTHFR (c677C> T) in DNA molecules isolated from blood or tissue. To investigate these variants, a single nucleotide sequencing method is used and the test is performed by a PCR reaction that is realized in two tubes.

USAGE AREAS

ThromboX3® MUTATION DETECTION KIT is a rapid, low-cost and reliable test through which the susceptibility to genetic thrombosis is investigated with a single nucleotide sequence method. Because of this situation, which is observed to be extremely common in our society, outcomes such as repetitive stillbirths, deep vein thrombosis, stroke and heart attack may be seen at an early age. Genetic investigation is recommended in all such cases and similar excessive risks of thrombosis.

TEKNİK ÖZELLİKLER

The susceptibility to thrombosis is a condition commonly observed in the community and may have very different clinical outcomes.

The investigation of the variants in genes that are known to be involved in various biological pathways and cause susceptibility to thrombosis is highly important for the genetic determination of susceptibility to thrombosis. The most commonly used variants in thrombosis susceptibility are variants of FV Leiden (c.1691G> A), Prothrombin (FII) (g.20210G> A), and MTHFR (c677C> T), MTHFR (c.1298A>C), Factor XIII (FXIII) (V34L) and PAI (4G/5G). The region of the G1619A mutation that is known to be responsible for the formation of Factor V Leiden is one of the three cut-off points at which Active Protein C (APC) break downs Factor Va. Because of the mutation, resistance against APC develops, and Factor V Leiden breaks down at one tenth of the rate of Factor Va and remains in circulation for a longer period. While the risk of venous thrombosis is slightly increased in those who carry the mutation as heterozygous, the risk of thrombosis in those who carry the mutation as homozygous has increased significantly (up to 20-fold). There is an increased risk for arterial and venous thrombosis, especially in those who carry the variant of Prothrombin (FII) (g.20210G> A) variant as homozygous. This variant has also been demonstrated to be associated with fetal losses. The enzyme in those who carry the T-alleles instead of A in 677th position in the MTHFR (c. 677C> T) Methylenetetrahydrofolate reductive (MTHFR) gene is more thermolabile and less active. This causes the folate concentration in the plasma to drop and increase in the homocysteine concentration. It is known that the increase in homocysteine concentration cause susceptibility to thromboembolism and atherosclerosis. The MTHFR (c.1298A>C) variant causes increase in the plasma homocysteine concentration, even though not to the same extent as MTHFR (c.677C>T). The FXIII (V34L) variant causes increased Factor XIII activity. PAI (4G/5G) is a single nucleotide deletion/insertion (4G/5G) variant. Because of 4G deletion change, Plasminogen Activator Inhibitor 1 (PAI1) concentration increases, depending on which fibrinolytic activity impairs, and susceptibility to trombotic events increases.

ThromboX6® MUTATION DETECTION KIT is a molecular diagnostic kit developed to investigate the variants of FV Leiden (c.1691G> A), Prothrombin (FII) (g.20210G> A), MTHFR (c677C> T), MTHFR (c.1298A>C), FXIII (V34L) ve PAI (4G/5G) in DNA molecules isolated from the blood or tissue. To investigate these variants, a single nucleotide sequencing method is used and the test is performed by a PCR reaction that is realized in two tubes.

USAGE AREAS

ThromboX6® MUTATION DETECTION KIT is a fast, low-cost and reliable test through which genetic thrombosis susceptibility is investigated by a single nucleotide sequence method. Because of this situation, which is extremely common in our society, outomes such as repetitive stillbirths, deep vein thrombosis, stroke, and heart attack may occur at an early age. Genetic investigation is recommended in all cases of this and similar excessive risks of thrombosis.

TEKNİK ÖZELLİKLER

Familial Mediterranean Fever (FMF) is an autosomal recessive inherited disease characterized by recurrent attacks of fever and pain.

The disease follows a sequence with fever accompanied with peritonitis, pleuritis and arthritis. Typically, attacks will be accompanied with fever and serositis and last for 1 to 4 days, in which spontaneous healing is observed. Renal failure due to amyloidosis is the most serious complication of the disease. The disease is very common, especially in Turkish, Armenian, Arab and Jewish communities as well as the Ashkenazi. In these communities, the incidence of the disease frequency may be as high as one in 200 and the carrier frequency is one in 5.

The disease is caused by mutations in the MEFV gene. The MEFV encodes the ´pyrin´ protein. The MEFV encodes the broad ´pyrin´ protein. The gene is mainly expressed in granulocytes and is responsible for bringing inflammation under control.

FMF® MUTATION DETECTION KIT is a molecular diagnostic kit developed to investigate mutations occurred in the MEFV gene in the DNA molecules isolated from blood or tissue. This kit was developed to investigate the E148Q, P369S, F479L, M680I, M694V, M694I, K695R, V726A, A744S and R761H mutations in the MEFV gene by a single nucleotide sequence method, and the test is performed by a PCR reaction that is realized in two tubes.

USAGE AREAS

FMF® MUTATION DETECTION KIT is used for the rapid, low-cost and reliable diagnosis of Familial Mediterranean Fever (FMF) by a single nucleotide sequence method. FMF is not only one of the most commonly occurring genetic diseases in our society, but it is also a very important disease in differential diagnosis of acute abdominal pain. It is imperative that patients with recurrent fever and attacks of pain are examined.

TECHNICAL SPESIFICATIONS

The susceptibility to thrombosis is a condition commonly observed in the community and may have very different clinical outcomes.

The investigation of the variants in genes that are known to be involved in various biological pathways and cause susceptibility to thrombosis is highly important for the genetic determination of susceptibility to thrombosis. The most commonly used variants in thrombosis susceptibility are variants of FV Leiden (c.1691G> A), Prothrombin (FII) (g.20210G> A), FV (c.3980A>G), MTHFR (c677C> T), MTHFR (c.1298A>C), Factor XIII (FXIII) (V34L), PAI (4G/5G), β-fibrinojen (c.-463C>T), APOB (c.10580G>A) and ITGB3(HPA-1) (c.176T>C). The region of the G1619A mutation that is known to be responsible for the formation of Factor V Leiden is one of the three cut-off points at which Active Protein C (APC) break downs Factor Va. Because of the mutation, resistance against APC develops, and Factor V Leiden breaks down at one tenth of the rate of Factor V and remains in circulation for a longer period. While the risk of venous thrombosis is slightly increased in those who carry the mutation as heterozygous, the risk of thrombosis in those who carry the mutation as homozygous has increased significantly (up to 20-fold). There is an increased risk for arterial and venous thrombosis, especially in those who carry the variant of Prothrombin (FII) (g.20210G> A) variant as homozygous. This variant has also been demonstrated to be associated with fetal losses. The enzyme in those who carry the T-alleles instead of A in 677th position in the MTHFR (c. 677C> T) Methylenetetrahydrofolate reductive (MTHFR) gene is more thermolabile and less active. This causes the folate concentration in the plasma to drop and increase in the homocysteine concentration. It is known that the increase in homocysteine concentration cause susceptibility to thromboembolism and atherosclerosis. APOB; It is the main apolipoprotein of LDL and acts as a ligand for the LDL receptor. The mutation delays the binding of LDL to the receptor and the clearance of LDL is reduced due to the delay. As a result, susceptibility to atherosclerosis and cardiovascular diseases is increased. HPA-1 is the fibrinogen receptor on the GlycoproteinIIa (GPIIIa) platelet membrane. The normal allele is expressed as A1 (a). The A2 (b) allele is important in early susceptibility to acute coronary events, myocardinfarction, and stroke. The MTHFR (c.1298A>C) variant causes increase in the plasma homocysteine concentration, even though not to the same extent as MTHFR (c.677C>T). The FXIII (V34L) variant causes increased Factor XIII activity. PAI (4G/5G) is a single nucleotide deletion/insertion (4G/5G) variant. Because of 4G deletion change, Plasminogen Activator Inhibitor 1 (PAI1) concentration increases, depending on which fibrinolytic activity impairs, and susceptibility to trombotic events increases.

ThromboX10® MUTATION DETECTION KIT is a molecular diagnostic kit developed to investigate the variants of FV Leiden (c.1691G>A), Protrombin (FII) (g.20210G>A), FV (c.3980A>G), MTHFR (c.677C>T), MTHFR (c.1298A>C), Factor XIII (FXIII) (V34L), PAI (4G/5G), β-fibrinojen (c.-463C>T), APOB (c.10580G>A) and ITGB3(HPA-1) (c.176T>C) in DNA molecules isolated from the blood or tissue. To investigate these variants, a single nucleotide sequencing method is used and the test is performed by a PCR reaction that is realized in two tubes.

USAGE AREAS

ThromboX10® MUTATION DETECTION KIT is a fast, low-cost and reliable test through which genetic thrombosis susceptibility is investigated by a single nucleotide sequence method. Because of this situation, which is extremely common in our society, outomes such as repetitive stillbirths, deep vein thrombosis, stroke, and heart attack may occur at an early age. Genetic investigation is recommended in all cases of this and similar excessive risks of thrombosis.

TEKNİK ÖZELLİKLER