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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMUTA 12
Method

Fluorescently tagged PCR fragments from the UGT1A1 promoter region at 2q37 are accurately sized on the ABI3130xl Genetic Analyser.

Diagnostic Use / Indications

A low-grade non-haemolytic unconjugated hyperbilirubinaemia in the absence of other biochemical or clinical features of hepatic pathology.

External Price$82.36(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA, purified DNA
Paediatric Specimen0.5 mL - 1 mL EDTA blood, purified DNA
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Interpretation

Gilbert's syndrome is caused by reduced activity of the uridine diphosphoglucose glucuronyltransferase enzyme (UGT1A1), resulting from the inheritance of two mutant alleles of the gene. It results in low-grade non-haemolytic unconjugated hyperbilirubinaemia, without other biochemical or clinical features of hepatic pathology. In Caucasians, Gilbert's syndrome is almost exclusively due to the dual inheritance of alleles with a two base insertion in the promoter sequence for the UGT1A1 gene. The TA(7)TAA variant, also referred to as the UGT1A1*28 variant, occurs in the population at a frequency of 30% while the normal TA(6)TAA allele has a frequency of 70%. This leads to a prevalence of Gilbert's syndrome of approximately 5%.

 

Additional Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.

Additional analysis to genotype UGT1A1 *6 and *27 polymorphisms, as well as full DNA sequencing of all coding regions, is also available upon request. This will incur additional charges.

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Delphic Number Test Number4572

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