View Only-Clinical Utility of Mate Pair Sequencing-Educational Material

Educational Material

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The MatePair, Targeted, Congenital test is a next-generation sequencing technology that aids in the characterization of chromosome abnormalities by sequencing the entire genome and mapping the sequences to create a comprehensive structural map. This technique allows for the detection and precise mapping of chromosome rearrangements, enabling the identification of genes at or near the breakpoints.<br /><br />This test is particularly useful in cases of de novo apparently balanced chromosome rearrangements, where traditional cytogenetic testing may not provide a clear understanding of the abnormality's significance. MatePair sequencing can help identify submicroscopic gene disruption or dysregulation that may explain the abnormal phenotype observed in these individuals.<br /><br />The test is recommended for second-tier testing when previous cytogenetic testing has identified a de novo congenital chromosome abnormality of unknown significance or an inherited balanced rearrangement that correlates with a specific phenotype in a family. It can also be used to clarify the position, orientation, and likelihood of gene disruption in clinically ambiguous copy number gains identified by chromosomal microarray, as well as to determine the size, precise breakpoints, gene content, orientation, and complexity of abnormalities identified by other methodologies. The results of this test can provide important diagnostic, prognostic, and therapeutic information for proper patient management.<br /><br />However, it's important to note that this testing does not detect single nucleotide variants (SNVs) and is limited to the previously identified targeted variant. In rare cases, some rearrangements, especially those involving highly repetitive regions, may not be detectable by current MatePair methods.<br /><br />To perform the test, a whole blood specimen is required, collected in green top (sodium heparin) and lavender top (EDTA) tubes.<br /><br />Clinical references for further reading include studies on the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations, as well as the association between submicroscopic imbalances and clinical variability in familial karyotypically balanced translocation.<br /><br />For additional information or questions, you can contact a genetic counselor in the Genomics Laboratory, Cytogenetics area. Mayo Medical Laboratories also provides a webinar on this topic and additional information on their website.

Keywords

MatePair sequencing

targeted congenital test

next-generation sequencing

chromosome abnormalities

comprehensive structural map

chromosome rearrangements

gene identification

de novo balanced rearrangements

submicroscopic gene disruption

diagnostic information