PEO Panel by Massively Parallel Sequencing
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hrs |
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