Clinical Pharmacogenetics Laboratory

Clinical Pharmacogenetics Laboratory

Click on the headings below to easily access the related contents in the Clinical Pharmacogenetics Laboratory field.

Üsküdar University, Medical Genetics and Molecular Diagnosis Laboratory conducts genotyping studies to determine the pharmacogenetic profiles of individuals. Our laboratory has been designed in accordance with the studies to be carried out at the molecular level and a Medical Genetics and Molecular Diagnosis laboratory with the necessary machinery and equipment has been established.

In our laboratory, DNA/RNA isolation is performed from blood or any tissue sample taken from patients for genotyping. These samples can then be used for genotyping or determination of expression levels. For genotyping studies, conventional PCR (polymerase chain reaction, PCR), restriction enzyme restriction fragment analysis (RFLP) and sequence analysis studies are carried out. In addition, more sensitive analyzes are performed with Real-time PCR in our laboratory.

Genotyping studies complement phenotypic studies in some cases and lead them in others. By ensuring genotype-phenotype correlation, patients receive a more effective treatment program in a shorter time and with minimized side effects. Genotypic analysis of CYP2D6, CYP2C9, CYP2C19, CYP1A2 and CYP3A4 groups, 5HTT and COMT polymorphism are the main genotyped genes.

What does the Clinical Pharmacogenetics Laboratory do?

Pharmacogenetics within the scope of 'Personalized Treatment' examines the changes in people's responses to drugs due to variations in their genetic structure. Differences in genetic structures that are involved in the metabolism of drugs or are active in the functioning of the mechanism can affect the usefulness and/or harmful effects of the drug in some people. Today, some genetic tests can detect unnecessary drugs or drugs with high side effects in advance.

What is Pharmacogenetic Testing?

Pharmacogenetic tests are genetic tests that help predict the effects of drugs on the body and develop personalized treatments by examining the genetic structure of individuals. These tests aim to identify specific genetic variations associated with the metabolism, mechanism of action and side effects of drugs. Pharmacogenetic testing can help determine the most effective and safest treatment for the patient and can help minimize side effects. Today, two main methods are used in the treatment of diseases:

  1. Trial and error method: The drug is administered until it takes effect.
  2. Protocol Method: First the diagnosis is made. Drugs are given according to the decision scheme in the protocol.

Pharmacogenetic studies have two main applications in the clinic:

  1. Evaluation of Response to Drugs: It is determined which patients will respond well to certain drugs and who will not. In this way, effective treatment processes are personalized.
  2. Prevention of Side Effects: Patients in whom medicines may cause side effects are identified in advance. This reduces the risk of side effects and increases the safety of medicines.

Laboratory tests are used for these purposes. Therapeutic drug blood level monitoring (TDM) monitors the effects of drugs and determines genetic profiles. Phenotyping is also performed using "probe drugs". The science of pharmacogenetics predicts drug responses, interactions and side effects according to the genetic structure of patients and contributes to the development of a personalized treatment approach.

In our country, drug blood level measurements are limited and performed by non-specific methods. However, pharmacogenetics aims to improve the efficacy and safety of drug therapy by developing a personalized treatment approach. Advances in this field can contribute to better management of diseases and improve response to treatment.

For What Purposes Are Pharmacogenetic Tests Used?

Pharmacogenetic tests are genetic tests that help predict the effects of drugs on the body and develop personalized treatments by examining the genetic makeup of individuals. These tests are used for the following purposes:

Predicting Drug Response: Pharmacogenetic tests help determine whether a drug is appropriate for a person's genetic profile. Drugs may work differently in each individual and these tests can help predict how a drug will respond to a person's disease.

Adjusting Drug Dosage: Genetic differences between individuals can have an impact on the metabolism of medicines. Pharmacogenetic testing can be critical in determining the appropriate dose of a drug. Adjusting the dosage according to the individual's genetic profile can improve treatment efficacy and reduce side effects.

Reducing Side Effects: Side effects of some medicines can occur due to genetic variations in individuals. Pharmacogenetic testing can predict which side effects are at risk and help make treatment safer.

Examination of Treatment Resistance Cases: Some patients may be resistant to certain medicines. Pharmacogenetic testing can help identify the cause of this resistance and alternative treatment options can be suggested.

Evaluation of Drug Interactions: Pharmacogenetic testing can help assess how multiple drugs used at the same time will interact in the body. This is important for the safety and effectiveness of drug combinations.

Drug Development and Drug Selection: Pharmacogenetic studies are used in drug development processes and to determine whether new drugs are suitable for patients with specific genetic profiles. This can help design more targeted therapies.

Booklet: Personalized Treatment

Click here to download the booklet "Personalized Treatment; Clinical Pharmacogenetics, Genetically Appropriate Treatment Options".

TDM MOLECULE LIST
S.NoActive IngredientDrug Half-Life (t 1/2)(Hour-Day)Therapeutic IntervalAlarm LevelRecommended Drug Use Sequence for TDM
1.Alprazolam12-15 hours20-40100 ng/ml3
2.Acomprosate3-33 hours250-7001000 ng/ml3
3.Amisulpiride12-20 hours100-320640 ng/ml1
4.Amitriptyline + Nortriptyline10-28 hours + 18-44 hours80-200300 ng/ml1
5.Aripiprazole60-80 hours100-3501 000 ng/ml2
6.Asenapine13-39 hours1-510 ng/ml4
7.Atomoxetine2-5 hours200-10002 000 ng/ml3
8.Bupropion + Hydroxybupropion1-15 hours + 17-47 hours850-15002 000 ng/ml2
9.Buspirone1-5 hours1-430 ng/ml3
10.Carbamazepine10-20 hours4-1220 µg/ml1
11.Carbamazepine 10-11Epoxide-0.4-44 µg/ml-
12.Chlorpromazine15-30 hours30-300600 ng/ml2
13.Citolopram38-48 hours50-110220 ng/ml1
14.Clomipramine16-60 hours230-450450 ng/ml1
15.Clonazepam19-40 hours4-80100 ng/ml3
16.Clozapine+Norclozapine12-16 hours350-6001 000 ng/ml1
17.DDTC_ME ( Disulfiram Diethylthiomethylcarbamate-methyl ester )6-9 hours270-310500 ng/mL3
18.Diazepam24-48 hours100-25003000 ng/ml4
19.Donepezil70-80 hours50-7575 ng/ml2
20.Duloxetine9-19 hours30-120240 ng/ml2
21.Escitalopram27-32 hours15-80160 ng/ml2
22.Fluoxetine4-6 days120-5001 000 ng/ml3
23.Flupentixol20-40 hours0.5-515 ng/ml2
24.Fluphenazine16 hours1-1015 ng/ml1
25.Fluvoxamine21-43 hours60-230500 ng/mL2
26.Gabapentine5-7 hours2-2025 µg/ml3
27.Haloperidol12-36 hours1-1015 ng/ml1
28.Imipramine + Desimipramine11-25 hours + 15-18 hours175-300300 ng/ml1
29.Lacosamide10-15 hours1-1020 µg/ml3
30.Lamotrigine14-104 hours1-1520 µg/ml2
31.Levetiracetam6-8 hours20-4050 µg/ml4
32.Lorazepam12-16 hours30-100300 ng/ml4
33.Maprotiline20-58 hours75-130220 ng/ml2
34.Memantine60-100 hours90-150300 ng/ml3
35.Metformin6.2 hours1-25 µg/ml-
36.Methylphenidate2 hours6-2650 ng/ml3
37.Mianserine14-33 hours15-70140 ng/ml3
38.Milnacipran5-8 hours100-150300 ng/ml2
39.Mirtazapine20-40 hours30-80160 ng/ml2
40.Moclobemide2-7 hours300-10002 000 ng/ml3
41.Modafinil10-12 hours100-17003 400 ng/ml3
42.Naltrexone + 6β-naltrexol2-5 hours + 7-13 hours25-100200 ng/ml2
43.Olanzapine30-60 hours20-80100 ng/ml1
44.Opipramol11 hours50-5001000 ng/ml3
45.Oxcarbamazepine (Oxcarbazepine 10-hydroxycarbazepine)10-20 hours10-3540 µg/ml2
46.Paliperidone (9-hydroxyrisperidone)17-23 hours20-60120 ng/ml2
47.Paroxetine12-44 hours20-65120 ng/ml3
48.Pimozide23-43 hours15-2020 ng/ml3
49.Pramipexole8-12 hours0.4-1.215 ng/ml3
50.Pregabaline5-7 hours2-510 µg/ml3
51.Quetiapine6-13 hours100-5001 000 ng/ml2
52.Reboxetine13-30 hours60-350700 ng/ml3
53.Risperidone + 9-hydroxy-risperidone2-4 hours + 17-23 hours20-60120 ng/ml2
54.Rivastigmine1-2 hours8-2040 ng/ml3
55.Sertindole55-90 hours50-100200 ng/ml2
56.Sertraline22-36 hours10-150300 ng/ml2
57.Sulpiride8-14 hours200-10001 000 ng/ml2
58.Tianeptine2.5-3 hours30-80160 ng/ml3
59.Topiramate19-23 hours2-1016 µg/ml3
60.Trazodone4-11 hours700-10001 200 ng/ml2
61.Trifluoperazine-1-2.3--
62.Venlafaxine + O-desmethylvenlafaxine (ODV)14-18 hours + 10-17 hours100-400800 ng/ml2
63.Valproic acid17-30 hours50-100120 µg/ml1
64.Vortioxetine57-66 hours10-4080 ng/ml2
65.Ziprasidone4-8 hours50-200400 ng/ml2
66.Zolpidem1-4 hours80-160320 ng/ml4
67.Zuclopenthixol15-25 hours4-50100 ng/ml3
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Updated At29 July 2024
Created At05 December 2023
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