Molecular Genetic Testing
Genetic Predisposition to Bile-Stones (Cholelithiasis)

Indication and Diagnostic Value


With a prevalence of 10-20% cholelithiasis is one of the most common diseases in developed countries. An inherited form has been described and linked to a cholesterol transport molecule localized in cells of the digestive tract. Presence of the genetic variant D19H in the gene ABCG8 correlates with appearance of bile-stones, thus enabling genetic diagnosis of one form of inherited cholelithiasis independently on age. Among German population, carriers of the risk allele 19H are at 3fold higher risk if compared to the wild - type allele 19D. The genetic test helps to define disease risks in families with frequent occurrence of bile-stones, and also to clearly distinguish between a sporadic and inherited form of this disease.

Samples and Test Method

IMMD blood stain test paper is required.
By using PCR and restriction fragment analysis the test unambiguously identifies homo – and heterozygous 55G→C transitions (D19H) in exon 1 of the ABCG8-gene. The specificity of the diagnosis reaches almost 100%.

Turnaround time for this test is 10 days.

 


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