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Gilbert's Syndrome

 After a a few elevated bilirubin levels, a NP ran a genetic test to confirm if I have Gilbert's syndrome, which would explain occasionally high levels. Per https://www.mayoclinic.org/diseases-conditions/gilberts-syndrome/symptoms-causes/syc-20372811

Gilbert (zheel-BAYR) syndrome is a common, harmless liver condition in which the liver doesn't properly process bilirubin. Bilirubin is produced by the breakdown of red blood cells.

Information could be useful as a reason to have in hand, if there are concerns about high bilirubin levels in the future.

Test results:

UDP Glucosuronosyltransferase 1A1MDx 110964
1/11/23 @ 1341 ORDERED BY 138927
(NOTE)
LABORATORY INTERPRETATION:  

Genotype: *28/*28 (Homozygous 7/7 TA repeats)

Specimen Type: Peripheral Blood 

INTERPRETATION:
High risk of irinotecan toxicity. This genotype (*28/*28) is also 
consistent with Gilbert Syndrome.


The overall risk of toxicity in patients heterozygous or homozygous 
for the 7 repeats (*1/*28 or *28/*28) is approximately 13% and 50%, 
respectively (Innocenti et al.,J Clin Oncol 22:1382-1388, 2004). 

-----------------------------------------------------------

Irinotecan Metabolism
---------------------
UGT1A1 catalyzes the inactivation of SN-38, the active and toxic 
metabolite of irinotecan. The presence of the UGT1A1*28 allele (7 TA 
repeats) reduces expression of the UGT1A1 gene. Thus, patients 
homozygous for this allele show decreased UGT1A1 enzymatic activity, 
resulting in the accumulation of SN-38, which could cause severe 
neutropenia and diarrhea during che
motherapy.

Disorders of Bilirubin Production
---------------------------------
The UGT1A1*28 allele has also been reported in patients with 
disorders of bilirubin metabolism
, such as Crigler-Najjar Types I and 
II and Gilbert syndrome. The majority of Caucasian patients with 
Gilbert syndrome are reported to have either one or two copies of the 
UGT1A1*28 allele.

Methodology
-----------
Genomic DNA was amplified at the UGT1A1 locus with fluorescent 
primers and the resulting products separated by capillary 
electrophoresis. Detection and sizing of the amplified PCR products 
was performed with fragment analysis software.

This test was developed and its performance characteristics 
determined by the UCSF Clinical Laboratories. It has not been cleared 
or approved by the U.S. Food and Drug Administration. The FDA has 
determined that such clearance or approval is not necessary. This 
test is used for clinical purposes. It should not be regarded as 
investigat
ional or research. This laboratory is certified under the 
Clinical Laboratory Improvement Amendments of 1988 (CLIA-88) as 
qualified to perform high complexity clinical laboratory testing.


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