Pharmacogenetics

Warfarin Dosage


Introduction: Warfarin is an oral anticoagulant medication that is used to prevent thrombosis and embolism. It inhibits the production of coagulation factors dependent on vitamin K and thus reduces the ability of the blood to clot. The monitoring of the dose response is done by an international standardized ratio (INR) and it is important that patients stay within a narrow range (usually 2 to 3 INR) due to the need to balance the goal of preventing blood clots with the risk of causing excessive bleeding. The range depends on giving the proper dose and this is individual for each person. About the exam: GENIA has the CYP2C9 genotyping test for the determination of CYP2C9 mutations (* 2 and * 3). The responsiveness of each individual to the medication he receives is due to the genetic variability of the enzymes involved in the mechanism of action and metabolization of said drugs. This study can be used to adjust the initial dose taking into account that certain genotypes for being slow metabolizers need a dose 10 times lower than a normal metabolizer. Genes or alleles analized: CYP2C9 *2 and *3 Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 10 business days In case you have any questions, get in touch.




Endopredict™


Introduction: Identify the patients who have developed breast cancer more suitable for a chemotherapy-free treatment. About the exam: By studying the activity of eight genes relevant to the course of the disease (BIRC5, UBE2C, DHCR7, RBBP8, IL6ST, AZGP1, MGP and STC2), the clinical data and the number of nodules, endopredict performs a score that determines whether the person has a low risk of a new recurrence and a high chance of avoiding chemotherapy. Genes or alleles analized: Risk of metastasis in patients with breast cancer Technique used: -- Sample type: Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 40 business days In case you have any questions, get in touch.




Genetic study of CYP2D6


Introduction: Many drugs approved by the FDA are available in the market today to treat a variety of mental health conditions. However, not everyone responds to medications in the same way due to factors such as age, weight, general health and nutrition. In addition, it has been consistently demonstrated that the genetic makeup of an individual influences how it will respond to certain medications.
About the exam: This enzyme is involved in the metabolism of 25% of the drugs commonly used in the clinic. Therefore, the alleles of CYP2D6 have different applications throughout different areas and depending on the drug in question, the effects may be different. Among the drugs metabolized by the CYP2D6 enzyme are antidepressants, antipsychotics, antiarrhythmics, beta-blockers, opioid analgesics and anticancer agents. With the present study, more than 20 alleles of CYP2D6 are analyzed, they represent more than 99% of the alleles present in the population.
Genes or alleles analized: CYP2D6 Technique used: NGS & MLPA Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 25 business days In case you have any questions, get in touch.




Genetic study of UGT1A1


Introduction: Irinotecan is a drug used mainly in the treatment of colorectal and lung cancer. The half-life of this drug depends on the enzyme UGT1A1, responsible for its catabolization. There is a variant of this enzyme, called * 28, whose catabolic activity is much lower than the normal variant. The administration of usual doses of irinotecan in patients who have two copies of the variant * 28 (in homozygosis) produces intoxication with severe diarrhea and neutropenia. The frequency of these patients is approximately 15%.
About the exam: Study to determine the presence or absence of alleles of the UGT1A1 gene that are associated with decreased activity of the enzyme UGT1A1. This enzyme is responsible for catabolizing the Irinotecano, therefore its deficiency generates toxicity with severe diarrhea and noutropenia. Irinotecan is used primarily in colorectal and lung cancer. The alleles analyzed are UGT1A1 * 28 and UGT1A1 * 6. Genes or alleles analized: UGT1A1 Technique used: Sanger Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.




Genetic study of the TPMT


Introduction: 6-Mercaptopurine and 6-thioguanine are antimetabolites analogous to purines, used to treat leukemias and lymphomas in children and adults. The half-life of these drugs depends on their catabolization carried out by the enzyme Thiopurine S-methyltransferase (TPMT). There are variants of the TPMT that show decreased activity. Patients with these variants are at risk of potentially fatal hematopoietic toxicity due to myelosuppression. The FDA warns that the identification of allelic variants of the TPMT gene allows predicting levels of toxicity to thiopurines, so it is recommended to study the variants of patients before starting treatment. About the exam: Study to determine the absence or absence of alleles of the TPMT gene that are associated with a decrease or absence of activity of the TPMT enzyme. This enzyme catabolizes the thiopurines (6-mercaptopurine and 6-thioguanine), therefore its deficiency generates potentially fatal hematopoietic toxicity due to myelosuppression by increasing the half-life of these drugs. These Thiopurines are used to treat leukemias and lymphomas in children and adults. The alleles analyzed are * 2, * 3A, * 3B, * 3C, * 4 of TPMT.
Genes or alleles analized: TPMT Technique used: Real Time Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.




Genetic study of DPYD


Introduction: 5-Fluorouracil (5-Flu) is used in colorectal, breast, head and neck cancer and in the aerodigestive tract cancer. 80% of 5-Flu is metabolized in the liver by the enzyme Dihydropyrimidine Dehydrogenase (DPD). A deficiency of DPD increases the half-life of 5-Flu up to 100 times. High levels of the drug are responsible for neutropenia, severe diarrhea, stomatitis, mucositis and neuropathy, which can lead to death. DPD deficiency occurs in 4-8% of the general population. The FDA contraindicates the use of 5-Flu in those patients deficient in DPD and recommends its screening in patients with an indication of 5-Flu. Each person has two copies of this gene, one inherited from the mother and another from the father. When the variants of the two copies are equal, the patient is homozygous. When they are different, it is heterozygous. About the exam:
Study to determine the presence or absence of alleles of the DPYD gene that are associated with a decrease or absence of DPD enzyme activity. This enzyme is fundamental in the elimination of the drug 5-Fluorouracilo, therefore its deficiency generates toxicity due to the accumulation of said drug. 5-Fluorouracil is used in colorectal cancer, breast, head and neck and aerodigestive tract cancer. And its accumulation can cause neutropenia, severe diarrhea, stomatitis, mucositis and neuropathy can lead to death. The analyzed alleles are DPYD * 2A, DPYD * 13 and D949V of DPYD. Genes or alleles analized: DPYD Technique used: Real Time Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.




Abacavir Hypersensitivity


Introduction: Abacavir (ABC) is an antiretroviral agent that acts by competitively inhibiting the reverse transcriptase of HIV-1 and is used in combination with other antiretroviral drugs in the treatment of HIV-1 infection, both in adults and children. One of the most important adverse effects associated with ABC is a hypersensitivity reaction called Abacavir Hypersensitivity Syndrome (AHS), which affects 5-8% of patients who start treatment with this drug, and is usually observed during the first 6 weeks of treatment (1,2). Although the clinical symptoms associated with SHA are nonspecific and difficult to differentiate from other reactions, a strong association with the HLA-B * 5701 allele (4) has been described. The prevalence of this allele is higher in Caucasian populations (5-8%) than in African-Americans, Asians and Hispanics (0.26-3.6%) (5-8).
About the exam: The presence of the allele HLA-A * 5701 (both in heterozygosis and in homozygosis) is an important predictor to develop hypersensitivity to Abacabir. Genes or alleles analized: HLA-B*5701 Technique used: Real Time Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 7 business days In case you have any questions, get in touch.




Carbamazepine Hypersensitivity


Introduction: Carbamazepine is an anticonvulsant and mood stabilizer used primarily for the treatment of epilepsy, bipolar disorder and trigeminal neuralgia. Approximately 10% of treated patients suffer from hypersensitivity reactions that vary in prevalence and severity. Carbamazepine can trigger hypersensitivity that manifests clinically at three levels: • The milder, maculopapular rash resolves once discontinued carbamazepine. • The hypersensitivity syndrome known as DRESS (Drug Rash with Eosinophilia and Systemic Symptoms), which is associated with a 10% mortality rate. • Steven Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) that present a fatality
ad de hasta el 30%. About the exam: The presence of the HLA-A * 3101 allele (both heterozygous and homozygous) is an important predictor since it increases the susceptibility to develop hypersensitivity of any type nine times indistinctly. The FDA warns that the risks and benefits must be weighed before considering the administration of said drug to patients carrying said allele. Genes or alleles analized: HLA-A*3101 Technique used: Real Time Sample type: Whole blood (EDTA tube), 2.5 mL // Cheek swab, 3 brushes // germinal DNA, 50uL, concentration 10ng / uL Results delivered in: 15 business days In case you have any questions, get in touch.





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