Genetic Testing in Wilson’s Disease Diagnosis
Genetic testing has become an increasingly important component of Wilson’s disease diagnosis. The condition is caused by mutations in a gene responsible for copper transport, and identifying these mutations provides definitive confirmation.
Genetic testing is particularly useful in ambiguous cases where biochemical and clinical findings are inconclusive. It also enables early detection in asymptomatic individuals, especially siblings or family members of diagnosed patients.
One advantage of genetic testing is its ability to confirm diagnosis without invasive procedures. It also supports prenatal counseling and family screening, helping prevent delayed diagnosis in future generations.
Despite its benefits, genetic testing has limitations. Not all disease-causing mutations are easily identifiable, and genetic variation may complicate interpretation. Therefore, results should always be considered alongside clinical and laboratory findings.
As genetic databases expand and testing becomes more accessible, its role in Wilson’s disease diagnosis is expected to grow further.