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TPMT (Thio Purine Methyl Transferase) Genotyping

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  • TPMT (Thio Purine Methyl Transferase) Genotyping

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About

blood sample
Sample

BLOOD

Gender
Gender

Both

users
Age group

7 years & above

Thiopurine drugs are offered to patients suffering from health complications such as autoimmune diseases and acute lymphoblastic leukaemia. Doctors might also prescribe these drugs to patients after undergoing organ transplantation.

However, some patients may suffer from the side effects of these drugs as they may be at the risk of developing thiopurine toxicity. The common side effects and ailments patients face after consuming these drugs include:

  • Extreme fatigue and weakness 
  • Headache 
  • Muscular weakness 
  • Abnormal weight loss 
  • Alopecia 
  • Stomatitis 
  • Skin infections or rashes 
  • Arthralgia

Doctors conduct the thiopurine methyltransferase (TPMT) genotyping test to prevent complications after prescribing thiopurine drugs to patients. It also helps them examine the deficiency of thiopurine methyltransferase among the patients.

Apollo 24|7 provides comprehensive facilities for conducting this TPMT genotyping test. During the process, doctors determine whether the patient's TPMT enzyme level is suitable for administering the thiopurine drugs and if it can metabolise the drugs.

If the patient's TPMT level is too low, the doctors might need to provide alternatives to the thiopurine drugs. The TPMT genotyping test analyses the TPMT enzyme activity and genetic variations in the TPMT gene. The test also identifies genetic differences that might lead to thiopurine toxicity and outlines the patient's probable response to thiopurines.

The TPMT genotyping test can help doctors prevent severe complications like bone marrow suppression and reduced levels of red blood cells, white blood cells, and platelets. Bone marrow damage can result in a condition called myelosuppression, in which the bone marrow is unable to develop red blood cells, platelets, and white blood cells. Conducting the TPMT genotyping test thus helps doctors understand strategies to treat complications like neutropenia and thrombocytopenia.

After the test, the doctors might find that the patient's TPMT enzyme activity is low. In that case, they might reduce the dosage of the thiopurine drugs. Patients might also receive additional drugs to decrease the possible risks of hematopoietic toxicity.

If the patient has very high levels of the TPMT enzyme, the doctor may advise them to take alternative medicine. If the patient has two copies of the TPMT gene, they are more likely to develop myelosuppression. This important genetic information will be identified when the patient undergoes the TPMT genotyping test. The test is also ideal for identifying common variants of TPMT deficiency. 
 

faqFrequently Asked Questions (FAQs)

When will the doctor advise you to go for the TPMT test?

In general, doctors will advise you to undergo the test before you begin thiopurine drug treatment.

Will I require any special preparation for the test?

There is no specific preparation required for the TPMT genotyping test. However, the doctor might perform a DNA confirmation procedure. This is to help the doctors understand any genetic variation that might lead to thiopurine drug intolerance.

What are the expected test results and their significance?

If the test results show no TPMT activity, then you might develop the side effects and complications of taking thiopurine drugs. If you have low TPMT activity, then your doctor might provide you with a lower dosage of the drugs. However, if you have normal TPMT activity, your doctor will prescribe a standard thiopurine drug dosage.

Can any other medical procedures affect the test results?

The test is primarily focused on analysing your red blood cells for TPMT enzyme activity. So, if you have recently undergone a procedure of blood transfusion, it might affect the TPMT test results. Hence, discussing all the tests you might have taken before the TPMT test is essential.

What causes TPMT deficiency?

The primary cause of TPMT deficiency is the changes in the TPMT gene. These changes can decrease the activity and stability of the TPMT enzyme. Due to this, the thiopurine medication stays longer in your body and causes internal damage.

What is the normal TPMT enzyme level?

The normal TPMT enzyme level in your body must be 26-50 nmol/h/g Hb. If the doctor finds your current TPMT level to be higher or lower than this, the treatment and medication might change.

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The information mentioned above is meant for educational purposes only and should not be taken as a substitute to your Physician’s advice. It is highly recommended that the customer consults with a qualified healthcare professional to interpret test results