Mitochondrial genome

Mitochondrial genome

[37 genes]

TURNAROUND TIME: 6 WEEKS

Analysis of the 37 mtDNA genes and their disease-associated variants. The detection of point mutations and large deletions, as well as the possibility to determine the degree of heteroplasmy in the submitted sample, are included in this study.

RELATED PHENOTYPES

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

 

NEUROLOGY PORTFOLIO


STUDY REQUEST
Select the panel you wish to request


INFORMED CONSENT
Required document in order to perform the study


VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria