A molecular pathologist identifies a homozygous deletion in the SMN1 gene using MLPA. What is the primary limitation of this technique compared to NGS?
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Correct answer: It cannot detect single nucleotide variants (SNVs)
Multiplex Ligation-dependent Probe Amplification (MLPA) is excellent for detecting copy number variations (CNVs) like deletions or duplications, but it is not designed to detect single nucleotide variants (SNVs) or small indels. NGS can simultaneously detect SNVs, CNVs, and structural variants.
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