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| Test Name: | UGT1A1 Genotyping for Irinotecan Toxicity |
| Compliance: | LDT |
| Test Description: | UGT1A1 gene mutations cause accumulation of toxic metabolite SN-38 (active toxic metabolite of Irinotecan), which may lead to irinotecan-related toxicities (neutropenia, diarrhea). Variations in TA repeat number in the TATAAA element of the 5' UGT1A1-promoter affect transcription efficiency. Individuals homozygous for the A(TA)7TAA allele are at an elevated risk of developing toxicity phenotypes with irinotecan treatment. |
| Methodology: | PCR-Sanger sequencing analysis of promoter region and exon 1 of UGT1A1 gene |
| Gene Name: | UGT1A1 |
| Protein Name: | |
| Specimen Requirements: | EDTA Blood (5mL) |
| Storage Condition: | Ambient Temperature / 4℃ (if overnight is needed) |
| Turn Around Time: | 5 working days from day of specimen received |
| OMIM: | |
| Genetic Home Reference: | |
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Non-disclosure and Complaints
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Personal health information or related information released to HKMPDC relating to the services requested may be subjected to re-disclosure by HKMPDC to health care providers, such as doctors, nurses, and others involved in the delivery of the services.
We may also disclose medical information about you to authorised public health or government officials for public health activities as required by law and accreditation body.
Copyright © 2013 香港分子病理檢驗中心 Hong Kong Molecular Pathology Diagnostic Centre Limited (HKMPDC). All Rights Reserved.
Information Updated 1 July, 2023.
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