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What is a UGT1A1 GENE POLYMORPHISM DETECTION (TA REPEATS)?

The UGT1A1 Gene Polymorphism Detection (TA Repeats) test is a genetic analysis used to identify variations in the UGT1A1 gene, specifically the number of thymine-adenine (TA) repeats in its promoter region. This test is performed to evaluate conditions such as Gilbert’s syndrome, Crigler-Najjar syndrome, and to assess risk of drug toxicity, especially with certain chemotherapy agents. It helps clinicians tailor treatment plans, predict drug metabolism, and provide accurate genetic counseling for affected individuals.

Additional Information

Also known as/ Other names: UGT1A1 (TA)n Genotyping, UGT1A1 Promoter Polymorphism Test, UGT1A1 TA Repeat Analysis, Gilbert Syndrome Genotyping (UGT1A1)
Parameters: 1
Recommended for: M/F/Others
Sample Type: Blood
Patient Preparation: Minimum gap from Chemotherapy should be 2 weeks
Reports: 14 Days

FAQs

Which drugs are most affected by UGT1A1 polymorphisms?

Chemotherapy agents like irinotecan and certain antiretroviral drugs are significantly impacted, as reduced enzyme activity can increase toxicity risk and require dose adjustments.

Can this test help in cancer treatment planning?

Yes, it is often used before prescribing irinotecan in colorectal cancer to predict tolerance and avoid severe side effects.

Does the number of TA repeats matter clinically?

Certainly, individuals with seven TA repeats (UGT1A1*28 variant) often have reduced enzyme activity, leading to higher bilirubin levels and drug sensitivity.

Can this test explain recurrent jaundice?

Yes, it helps confirm Gilbert’s syndrome, a benign condition causing mild recurrent jaundice due to reduced bilirubin clearance.

Does the test detect all UGT1A1 variants?

It specifically detects TA repeat polymorphisms, but extended genetic panels may be required for rare variants.

Can the test influence drug dosage?

Yes, results guide clinicians in adjusting chemotherapy or other drug dosages to minimize toxicity.

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