Oligonucleotide aCGH Analysis (Targeted Analysis)

Clinical Use

Use

Oligonucleotide aCGH Analysis (Targeted Analysis) provides a comprehensive evaluation of specific mitochondrial and metabolic disorders. It aims to identify intragenic nuclear deletions/duplications and larger mtDNA deletions, thereby helping in the diagnosis of conditions that may arise due to abnormalities in mitochondrial or nuclear genes. Patients with suspected mitochondrial or metabolic disorders are strongly encouraged to undergo this test. This test utilizes a highly sensitive microarray containing 180,000 probes to assess both mitochondrial and nuclear DNA, significantly improving diagnostic accuracy and enabling appropriate clinical management of conditions that are often challenging to evaluate using standard genetic testing methods.

Special Instructions

Prior to ordering, it is essential to contact the laboratory to confirm coverage for the gene of interest, as well as to note the specific gene on the requisition form. For concurrent analysis of multiple genes, please refer to test code 2003. This ensures the laboratory can adequately prepare for the required tests and provide accurate results.

Limitations

This analysis is limited to detecting deletions and duplications and may not capture all mutations associated with mitochondrial disorders. Patient results could be influenced by presenting a mosaic pattern or by the complexities of mitochondrial genetics. Variants of uncertain significance may occur frequently due to the complexity of mitochondrial inheritance patterns. This test does not assess every mitochondrial disorder nor does it account for all potential clinical presentations. It is advisable to use this analysis in conjunction with other clinical findings to derive a complete assessment of the patient's condition.

Test Details