(2025) combined two genetic testing methods to improve diagnosis for rare inherited disorders like Pompe disease.
The researchers used multiplex ligation probe amplification, which detects large DNA changes, alongside traditional sequencing that reads genetic code letter-by-letter.
This dual approach helps identify genetic errors that single methods might miss, leading to more accurate diagnoses in patients with low enzyme activity and classic symptoms.
The study identified three unrelated Pompe patients using this combined testing strategy.
Although outcomes were not detailed, the findings emphasize how integrating different laboratory methods can better detect patients who might otherwise be misdiagnosed or undiagnosed due to the disease’s complex genetics.
Early and accurate diagnosis is crucial for conditions where timely treatment can significantly affect disease progression.
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