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Official Description

UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, drug metabolism, hereditary unconjugated hyperbilirubinemia [Gilbert syndrome]) gene analysis, common variants (eg, *28, *36, *37)

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 81350 pertains to the molecular genetic testing of the UGT1A1 gene, which encodes for enzymes involved in the glucuronidation pathway. This pathway is crucial for the metabolism of various substances, including steroids, bilirubin, hormones, drugs, and environmental toxins, converting them into water-soluble metabolites that can be efficiently filtered by the kidneys and excreted in urine. The analysis specifically targets common variants of the UGT1A1 gene, such as *28, *36, and *37, which are associated with hereditary unconjugated hyperbilirubinemia, commonly known as Gilbert syndrome. Gilbert syndrome is an autosomal recessive condition characterized by elevated bilirubin levels in the blood, resulting from the impaired function of the UGT1A1 enzyme. Individuals who inherit mutations from both parents are at risk of developing this syndrome, while those who inherit a mutation from only one parent are considered carriers and may experience reduced enzyme activity. The *28 variant is particularly notable for its prevalence among Caucasian and African populations, while the *36 and *37 variants are predominantly found in individuals of African descent. Understanding these genetic variations is essential, especially for patients undergoing chemotherapy with irinotecan, as those with specific UGT1A1 mutations may require dosage adjustments to mitigate the risk of toxicity.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The molecular genetic testing for UGT1A1 gene analysis is indicated for the following conditions and scenarios:

  • Hereditary Unconjugated Hyperbilirubinemia This testing is performed to identify individuals with Gilbert syndrome, which is characterized by elevated bilirubin levels due to UGT1A1 enzyme deficiency.
  • Drug Metabolism Assessment The analysis is crucial for evaluating an individual's ability to metabolize certain drugs, particularly irinotecan, which is used in chemotherapy.
  • Risk Evaluation for Irinotecan Toxicity Individuals undergoing treatment with irinotecan may be tested to determine their risk of toxicity based on their UGT1A1 gene variants.

2. Procedure

The procedure for UGT1A1 gene analysis involves several key steps to ensure accurate testing and results:

  • Sample Collection A biological sample, typically blood or saliva, is collected from the patient. This sample contains the DNA necessary for genetic analysis.
  • DNA Extraction The DNA is extracted from the collected sample using standardized laboratory techniques to isolate the genetic material for testing.
  • Genetic Analysis The extracted DNA is subjected to molecular genetic testing methods, such as polymerase chain reaction (PCR) and sequencing, to identify specific variants of the UGT1A1 gene, including *28, *36, and *37.
  • Result Interpretation The results of the genetic analysis are interpreted by qualified laboratory personnel, who assess the presence of any mutations and their implications for drug metabolism and the risk of Gilbert syndrome.
  • Reporting A comprehensive report is generated, detailing the findings of the genetic analysis, which is then provided to the healthcare provider for further clinical decision-making.

3. Post-Procedure

After the UGT1A1 gene analysis is completed, patients may receive counseling regarding the implications of their test results. If a mutation is identified, healthcare providers may discuss the potential need for dosage adjustments for medications, particularly irinotecan, to minimize the risk of adverse effects. Additionally, patients may be advised on the hereditary nature of Gilbert syndrome and the importance of informing family members about the potential genetic risks. Follow-up appointments may be scheduled to review the results and discuss any necessary changes to treatment plans based on the findings of the genetic analysis.

Short Descr UGT1A1 GENE COMMON VARIANTS
Medium Descr UGT1A1 GENE ANALYSIS COMMON VARIANTS
Long Descr UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, drug metabolism, hereditary unconjugated hyperbilirubinemia [Gilbert syndrome]) gene analysis, common variants (eg, *28, *36, *37)
Status Code Statutory Exclusion (from MPFS, may be paid under other methodologies)
Global Days XXX - Global Concept Does Not Apply
PC/TC Indicator (26, TC) 9 - Not Applicable
Multiple Procedures (51) 9 - Concept does not apply.
Bilateral Surgery (50) 9 - Concept does not apply.
Physician Supervisions 09 - Concept does not apply.
Assistant Surgeon (80, 82) 9 - Concept does not apply.
Co-Surgeons (62) 9 - Concept does not apply.
Team Surgery (66) 9 - Concept does not apply.
Diagnostic Imaging Family 99 - Concept Does Not Apply
CLIA Waived (QW) No
APC Status Indicator Service Paid under Fee Schedule or Payment System other than OPPS
Type of Service (TOS) 5 - Diagnostic Laboratory
Berenson-Eggers TOS (BETOS) T1H - Lab tests - other (non-Medicare fee schedule)
MUE 1
CCS Clinical Classification 234 - Pathology
90 Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number.
59 Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25.
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
GA Waiver of liability statement issued as required by payer policy, individual case
GV Attending physician not employed or paid under arrangement by the patient's hospice provider
GW Service not related to the hospice patient's terminal condition
GY Item or service statutorily excluded, does not meet the definition of any medicare benefit or, for non-medicare insurers, is not a contract benefit
GZ Item or service expected to be denied as not reasonable and necessary
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2020-01-01 Changed Code description changed.
2012-01-01 Added Added
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