C0158
Common Mutation Panel mtDNA
Number of Tests | 5 |
Test Included | MELAS1, MERRF, NARP, LHON, KSS MT DNA mutation |
Test Details: This test is a multigene panel for detection of mitochondrial disorders athat re clinically heterogeneous and result from dysfunction of the mitochondrial respiratory chain, which can be caused by pathogenic variants in mitochondrial DNA (mtDNA) or in nuclear genes. Some affected individuals exhibit clinical features that fall into a discrete clinical syndrome, such as Leber’s Hereditary Optic Neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP) or Leigh syndrome (LS).
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Category
Molecular Genetics
Pre-test Information
Clinical history is mandatory.
Report Delivery
11 working days
Gender
All
Organ
Multi-Organ
Common Mutation Panel mtDNA
12000
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