Nuclear Mitochondrial Genes General Panel [400 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 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.

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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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Nuclear Mitochondrial Genes General Panel

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Turnaround time (TAT): 4 weeks

Ref. S-202008652

Nuclear Mitochondrial Genes General Panel: View panel

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:

Related panels
Nuclear Mitochondrial Genes General Panel [400 genes]