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Mitochondrial Diseases
Mitochondrial Genome Sequencing [37 genes]: Mitochondrial DNA includes 22 genes that encode transfer RNA and 15 genes that encode proteins of the mitochondrial respiratory chain. Their importance lies in the fact that these genes are usually not included in the most common NGS panels nor in exomes, since they require a different approach. Therefore, Health in Code has developed a diagnostic service based on NGS sequencing of the whole mitochondrial genome to characterize both point substitutions and CNVs.
– Indication for genetic testing:
- Upon strong suspicion of mitochondrial disease, when sequencing of nuclear genes has yielded negative results.
- Upon strong suspicion of a disease that, based on its symptoms, can be highly specific of mutations in mitochondrial DNA.
- Upon suspicion of a disease with matrilineal inheritance (typical of this type of mutations, which only women transmit to both male and female offspring) whose manifestations are consistent with the spectrum of mitochondrial diseases.
- When NGS panels aimed at a specific cardiovascular phenotype have tested negative and the possibility of mutations in mitochondrial DNA causing the clinical picture needs to be ruled out.
Nuclear Mitochondrial Genes General Panel [400 genes]: This panel includes all nuclear genes that encode proteins located in the mitochondria, where the oxidative phosphorylation process takes place. Unlike the genes encoded by mitochondrial DNA (mtDNA), the inheritance pattern for nuclear genes is autosomal recessive in most cases (along with some X-linked ones).
Those genes with demonstrated association with a cardiovascular phenotype are included in the general and phenotype-specific gene panels featured earlier in this portfolio. However, starting the assessment with this gene panel could be recommended in some cases:
– Indication for genetic testing:
- Upon strong suspicion of mitochondrial disease based on clinical features, consistent with an autosomal recessive or X-linked inheritance pattern.
- Upon strong suspicion of mitochondrial disease based on clinical features, with absent or very mild cardiovascular manifestations.
- Upon suspicion of mitochondrial disease where extracardiac manifestations (acidosis or metabolic alterations and neurological involvement, such as seizures, neuropathy, or myopathy) predominate over cardiovascular ones.
Mitochondrial Genome Sequencing [37 genes]: Mitochondrial DNA includes 22 genes that encode transfer RNA and 15 genes that encode proteins of the mitochondrial respiratory chain. Their importance lies in the fact that these genes are usually not included in the most common NGS panels nor in exomes, since they require a different approach. Therefore, Health in Code has developed a diagnostic service based on NGS sequencing of the whole mitochondrial genome to characterize both point substitutions and CNVs.
– Indication for genetic testing:
- Upon strong suspicion of mitochondrial disease, when sequencing of nuclear genes has yielded negative results.
- Upon strong suspicion of a disease that, based on its symptoms, can be highly specific of mutations in mitochondrial DNA.
- Upon suspicion of a disease with matrilineal inheritance (typical of this type of mutations, which only women transmit to both male and female offspring) whose manifestations are consistent with the spectrum of mitochondrial diseases.
- When NGS panels aimed at a specific cardiovascular phenotype have tested negative and the possibility of mutations in mitochondrial DNA causing the clinical picture needs to be ruled out.
Nuclear Mitochondrial Genes General Panel [400 genes]: This panel includes all nuclear genes that encode proteins located in the mitochondria, where the oxidative phosphorylation process takes place. Unlike the genes encoded by mitochondrial DNA (mtDNA), the inheritance pattern for nuclear genes is autosomal recessive in most cases (along with some X-linked ones).
Those genes with demonstrated association with a cardiovascular phenotype are included in the general and phenotype-specific gene panels featured earlier in this portfolio. However, starting the assessment with this gene panel could be recommended in some cases:
– Indication for genetic testing:
- Upon strong suspicion of mitochondrial disease based on clinical features, consistent with an autosomal recessive or X-linked inheritance pattern.
- Upon strong suspicion of mitochondrial disease based on clinical features, with absent or very mild cardiovascular manifestations.
- Upon suspicion of mitochondrial disease where extracardiac manifestations (acidosis or metabolic alterations and neurological involvement, such as seizures, neuropathy, or myopathy) predominate over cardiovascular ones.
