What type of diseases can MLPA help diagnose?

MLPA, or Multiplex Ligation-dependent Probe Amplification, is a sophisticated technique primarily used for detecting copy number variations (CNVs) in DNA. This method excels at identifying aneuploidies, which are conditions involving an abnormal number of chromosomes, as well as specific genetic alterations associated with various cancers.

When it comes to aneuploidies, MLPA can effectively diagnose conditions such as Down syndrome, Turner syndrome, and Klinefelter syndrome, among others. These conditions are marked by the presence of either missing or additional chromosomes.

Additionally, in the realm of oncology, MLPA is valuable for detecting gene deletions or amplifications that frequently occur in tumors. This includes alterations in genes such as those involved in tumor suppression or oncogenesis, which can indicate the presence of cancers like leukemia, breast cancer, and more.

The other types of diseases mentioned do not typically fall under the primary scope of MLPA. While it can provide insights into specific hematological disorders, the technique’s main focus is on chromosomal alterations and copy number changes, making it particularly suited for aneuploidies and various malignancies.