Mitochondrial Genome Sequencing [37 genes]

This category encompasses a heterogeneous group of diseases that develop as a consequence of alterations in proteins located in the mitochondria. These proteins are encoded both by the genes present in the mitochondrial DNA and by nuclear genes.

Their wide clinical presentation spectrum ranges from more severe forms of mitochondrial disease, which generally present during infancy or early childhood, to milder forms usually diagnosed during adulthood. Although some of them affect isolated organs, a multisystem presentation is more frequent and involves neurological, metabolic, myopathic, and cardiac manifestations, among others.

Cardiac manifestations typical of mitochondrial disease encompass hypertrophic, dilated, and non-compaction cardiomyopathy and cardiac arrhytmias, including cardiac conduction disorders (AV blocks). Sudden death is also part of this spectrum. Since mitochondrial diseases often present as a syndrome with multiorgan dysfunction, they may not appear to be cardiovascular-specific diseases; moreover, overlapping clinical pictures where the diagnosis of a mitochondrial disease is complex are also observed, and forms that present with isolated cardiac involvement have even been reported.

  • 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.

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Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Mon–Thur: 8am – 5pm

5. Result: the report

Via: Client Site HIC / Client Site Imegen / Certified email

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Mitochondrial Genome Sequencing

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Turnaround time (TAT): 4 weeks

Ref. S-201805389

Mitochondrial Genome Sequencing: View panel

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.

Related panels
Nuclear Mitochondrial Genes General Panel [400 genes]