MitoMet®Plus aCGH Analysis

Casandra

Casandra Test Code BA24610Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 2000CPT Code 81228

MitoMet®Plus aCGH Analysis

Clinical Use

Use

The MitoMet Plus aCGH Analysis is crucial for diagnosing mitochondrial and metabolic disorders in patients with suspected conditions. The analysis comprises 180,000 oligonucleotide probes that target both mitochondrial and nuclear genes related to various metabolic disorders. This test is particularly beneficial for identifying intragenic nuclear deletions and mtDNA deletions, allowing clinicians to better understand the genetic factors involved in these diseases. Given the complex inheritance patterns, the analysis aids in evaluating disease risk and informing appropriate patient management strategies.

Special Instructions

This analysis is not suitable for detecting point mutations or small deletions/duplications. Specifically, mtDNA deletions under 200 bp and nuclear gene deletions less than 1 kb may remain undetected by this assay. Additionally, heteroplasmy levels less than 15% may also be undetectable. It is important that healthcare providers consider these limitations when interpreting results, as undetected variants may impact clinical decision-making.

Limitations

The MitoMet Plus aCGH Analysis cannot identify point mutations or small deletions/duplications. Specifically, mtDNA deletions less than 200 bp and nuclear deletions under 1 kb may go undetected. Similarly, low levels of heteroplasmy, particularly those below 15%, may also be overlooked. These limitations necessitate careful clinical interpretation and consideration of other genetic testing or evaluations to confirm a comprehensive diagnosis.

Test Details