Dual Genome Leigh Disease Panel by Massively Parallel Sequencing
Use
The Dual Genome Leigh Disease Panel is designed to assess 82 nuclear and 37 mitochondrial genes associated with Leigh syndrome. This condition can lead to severe psychomotor regression, gastrointestinal issues, weak muscle tone, and failure to thrive. The test helps in diagnosing and confirming Leigh syndrome in patients suspected of having the condition due to mitochondrial or nuclear gene mutations.
Special Instructions
Prior to testing, a detailed clinical history should be gathered to support the testing process. The panel is designed to be comprehensive, but it is also possible to order sequence analysis for the 82 nuclear genes on an individual basis if deemed necessary. Patients should be counselled regarding the implications of testing, including potential next steps based on results. Coordination with a genetic counselor is recommended for families undergoing this testing, ensuring they have the support required throughout the process.
Limitations
This testing may not detect genomic structural rearrangements such as deletions, duplications, inversions, or large insertion mutations. Moreover, this analysis will not identify mutations located in genes for promoters or deep intronic areas. Variants found during the analysis are confirmed through Sanger sequencing for accuracy.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Unknown)
Volume
3-5 cc
Minimum Volume
Not provided
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. Sample must arrive within 72 hrs.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hrs |