Mitochondrial genome [37 genes]

Analysis of the 37 mtDNA genes and disease-associated variants. The study detects point mutations and large deletions, as well as offers the possibility of determining the degree of heteroplasmy in the submitted sample.

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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

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Turnaround time (TAT): 6 weeks

Ref. S-201805389

Related panels
Nuclear mitochondrial genes comprehensive panel [400 genes]

Phenotypes

  • Myoclonic epilepsy with ragged-red fibers (MERRF)
  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
  • Leber’s hereditary optic neuropathy (LHON)
  • Neuropathy, ataxia, and retinitis pigmentosa (NARP)
  • Chronic progressive external ophthalmoplegia (CPEO)
  • Kearns-Sayre syndrome
  • Leigh syndrome
  • Pearson syndrome