Invitae Mitochondrial Disease Panels
I cannot provide a definitive answer about which specific Invitae panel includes MT-T1 (mitochondrial tRNA serine 1) and MT-TF (mitochondrial tRNA phenylalanine) based on the evidence provided, as none of the studies directly reference Invitae's commercial panel offerings or their specific gene content.
What the Evidence Shows
Mitochondrial tRNA Gene Testing Approaches
The evidence describes general mitochondrial testing methodologies rather than specific commercial panels:
- Mitochondrial tRNA genes are hotspots for mutations and account for approximately half of mitochondrial disease cases 1
- The mitochondrial genome encodes for tRNA as well as proteins, requiring specialized interpretation approaches 2
- MT-TL1 (leucine tRNA) mutations are well-documented in the literature, but MT-T1 (serine tRNA) and MT-TF (phenylalanine tRNA) require comprehensive mitochondrial genome sequencing for detection 2
Available Testing Platforms
NGS-based mitochondrial panels that would capture these genes include:
- Custom mitochondrial and nuclear disease panels (Mito-aND-Panel) that sequence the complete mtDNA genome alongside nuclear genes 3
- Precision ID mtDNA Whole Genome assays that sequence the entire mitochondrial genome 4
- Multiplex PCR-based approaches covering the entire mtDNA 5
Clinical Recommendation
For detecting MT-T1 and MT-TF variants, you should contact Invitae directly to confirm which of their panels includes complete mitochondrial genome sequencing. Based on the evidence, any comprehensive mitochondrial disease panel should include these genes if it sequences the entire mitochondrial genome 3. Partial panels focusing only on common pathogenic mutations may miss these specific tRNA genes 5.
Key Considerations
- Heteroplasmy detection: NGS-based methods provide superior sensitivity for detecting low-level heteroplasmy (down to 0.8-1%) compared to Sanger sequencing, which is crucial for mitochondrial disease diagnosis 3, 5
- Clinical presentation: MT-TF variants have been associated with optic neuropathy, cardiomyopathy, and cognitive disability when combined with nuclear gene mutations 6
- Testing strategy: Consider requesting whole mitochondrial genome sequencing rather than targeted mutation panels to ensure comprehensive coverage of all mitochondrial tRNA genes 3