Oligonucleotide aCGH Analysis (Targeted Multiple Gene Analysis)

Casandra

Casandra Test Code BA69648Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 2003CPT Code 81479

Oligonucleotide aCGH Analysis (Targeted Multiple Gene Analysis)

Clinical Use

Use

Oligonucleotide aCGH Analysis (Targeted Analysis) is employed predominantly to analyze multiple genes related to mitochondrial and metabolic disorders. It is especially recommended for patients with a suspected mitochondrial or metabolic disorder, or for those who require follow-up after heterozygous point mutations have been detected through sequence analysis. The analysis targets a significant number of genes known for their involvement in respiration, amino acid metabolism, and other critical biological processes, thereby providing a comprehensive evaluation of metabolic deficiencies or dysfunctions. The test's ability to identify variations and mutations at a granular level is crucial in establishing accurate diagnoses and guiding subsequent treatment decisions.

Special Instructions

This assay uses the MitoMet®Plus aCGH array, which contains 180,000 oligonucleotide probes. It can detect nuclear deletions or duplications as small as 200 bp and can identify mtDNA deletions larger than 200 bp. It is crucial for patients to be prepared for blood sample collection as per specified instructions.

Limitations

The assay has limitations, particularly concerning its sensitivity to detect deletions or duplications. While it is capable of identifying intragenic deletions/duplications as small as 200 bp, it may not capture all variations present. Additionally, interpretation of results requires careful consideration of clinical context, as the presence of detected variants may not always correlate with phenotypic manifestations. The test does not cover all genetic variations related to mitochondrial diseases, and false negatives may occur if the mutations are outside of the targeted panels. Results should always be confirmed in conjunction with further genetic testing or clinical evaluations when necessary.

Test Details