PEO Panel by Massively Parallel Sequencing

Casandra

Casandra Test Code BA55349Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 2140CPT Codes 81404, 81405, 81406, 81407, 81479

PEO Panel by Massively Parallel Sequencing

Clinical Use

Use

The PEO Panel offers a molecular diagnosis by evaluating 10 key nuclear-encoded genes significant for progressive external ophthalmoplegia (PEO). This condition, predominantly characterized by multiple mitochondrial DNA deletions in skeletal muscle, frequently overlaps with mitochondrial syndromes like Kearns-Sayre Syndrome and Pearson Syndrome. Initial symptoms typically manifest in adulthood as weakness of ocular muscles, leading to ptosis and ophthalmoplegia that progressive over time. Additional symptoms may include generalized muscle weakness affecting limbs. This molecular analysis aids in identifying disease-causing variants in both mitochondrial and nuclear genes for patients who have been previously tested negatively for PEO variants.

Special Instructions

This panel is suitable for patients exhibiting symptoms consistent with PEO, along with those with confirmed mitochondrial DNA deletions. Informed consent must be obtained for testing, and it's advised that samples are managed following the specified guidelines to ensure integrity. Contacting client services is recommended for any specific inquiries or details during the ordering process.

Limitations

While the PEO Panel provides extensive coverage of primary genes associated with PEO, it is essential to note that the sensitivity of the test may vary based on the specific genetic context of the individual. There remains a possibility of undetected mutations or genetic variations not included in the panel. Moreover, variants of uncertain significance may arise, complicating accurate clinical interpretation. As with any genetic testing, results should be evaluated within the clinical context of the patient for proper clinical management and follow-up. Clinical guidelines and patient history play a crucial role in interpreting outcomes from the PEO Panel, as mitochondrial genetics can be particularly complex.

Test Details

New York Approved