Short Description

NGS genetic DNA test detecets for variant and mutation detection in TPMT gene for TPMT deficiency

PreTest Information

Clinical History of Patient who is going for TPMT Gene TPMT deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TPMT deficiency

Detail Description

Understanding TPMT Gene Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Thiopurine S-methyltransferase (TPMT) is an essential enzyme that plays a crucial role in the metabolism of thiopurine drugs, including azathioprine, 6-mercaptopurine, and thioguanine. TPMT deficiency is a genetic condition that affects the activity of this enzyme, leading to an increased risk of toxicity and adverse reactions to thiopurine drugs.

Symptoms of TPMT Gene Deficiency

TPMT deficiency is an inherited condition that can affect individuals of any age, race, or gender. The symptoms and severity of the condition can vary widely, depending on the level of enzyme activity. Some people with TPMT deficiency may experience no symptoms, while others may develop severe reactions to thiopurine drugs, such as:

• Nausea and vomiting
• Diarrhea
• Fever
• Bone marrow suppression
• Hepatotoxicity
• Increased risk of infections

Diagnosing TPMT Gene Deficiency

TPMT deficiency is diagnosed through genetic testing, which involves analyzing a person's DNA to identify any mutations or variations in the TPMT gene. This test can be performed using a variety of methods, including:

• PCR-based assays
• DNA sequencing
• Next-generation sequencing (NGS)

NGS is a highly advanced and accurate method of genetic testing that can detect multiple mutations and variations in the TPMT gene simultaneously. This approach allows for a more comprehensive and detailed analysis of a person's genetic profile, providing clinicians with valuable insights into the risk of adverse reactions to thiopurine drugs.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic testing for TPMT deficiency in India can vary widely, depending on a variety of factors, including the laboratory, the type of test, and the level of analysis required. However, on average, the cost of NGS testing for TPMT deficiency in India is around INR 20,000.

It is important to note that this cost may be covered by insurance in some cases, and that many laboratories offer discounts and other cost-saving measures to make genetic testing more accessible and affordable for patients.

Conclusion

TPMT deficiency is a genetic condition that can increase the risk of adverse reactions to thiopurine drugs, including bone marrow suppression, hepatotoxicity, and increased risk of infections. Genetic testing, including NGS, can provide valuable insights into a person's genetic profile and help clinicians to make more informed decisions about treatment options and drug dosages.

If you are concerned about TPMT deficiency or any other genetic condition, it is important to speak with a qualified genetic counselor or healthcare provider to discuss your options and determine the best course of action for your individual needs.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TPMT Gene TPMT deficiency NGS Genetic DNA Test