Invitae Nuclear Mitochondrial Disorders Panel
Use
The Invitae Nuclear Mitochondrial Disorders Panel analyzes nuclear-encoded genes that are associated with mitochondrial dysfunction. This includes deficiencies of oxidative phosphorylation, mitochondrial complexes, primary coenzyme Q10 deficiency, and multiple mitochondrial dysfunction syndromes. Genetic testing may confirm a diagnosis and guide treatment and management decisions.
Special Instructions
The panel includes genes associated with adult-onset conditions and genes that may confer an increased risk for cancer, such as FH, IDH3B, and SDHC.
Limitations
The analysis covers clinically important regions of each gene, including coding exons and adjacent intronic sequences. Select non-coding variants are also analyzed, but variants outside these regions are not. The assay detects single nucleotide variants, insertions, and deletions 99% sensitivity and specificity. Detection of larger insertions and deletions may have reduced sensitivity. Certain structural rearrangements and variants in complex sequences may not be detected. Single exon copy number events may be affected by data quality and rarely may not be analyzed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)