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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.
Request study
Informed consent
Steps to follow
Ask for information
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
Solicita información de
Mitochondrial genome
Turnaround time (TAT): 6 weeks
Ref. S-201805389
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