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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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UGT1A1 TA Repeat Analysis
Test Information: Determine the polymorphic TA repeat numbers in UGT1A1 promoter region.
Test Details
Test Code: 9310
Special Notes: UGT1A1 (UDP Glucuronosyltransferase 1A1) The UGT1A1 gene is part of a complex locus that encodes several UDP-glucuronosyltransferases (UDPGT). UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. 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. The common number of repeats is six [(TA)6, *1 allele], while seven repeats [(TA)7, *28 allele] is associated with reduced transcription activity. Homozygosity for the (TA) 7 allele is also associated with Gilbert's syndrome (benign familial hyperbilirubinemia).

Useful Publications:
- Relevance of different UGT1A1 polymorphisms in Irinotecan-induced toxicity.
- Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism predicts the risk of gastrointestinal toxicity and fatigue induced by irinotecan-based chemotherapy.
Technical Information
Methodology: PCR followed by capillary electropheresis
Gene Name: UGT1A1
Protein Name: UDP glucuronosyltransferase 1 family, polypeptide A1
Sample & Shipping Information
Test Requisition: Cancer Molecular Germline
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tubes and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 3-7 days
Billing Information
List Price: $450.00 *Institutional discounts may apply, please call.
CPT Codes: 81350x1


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