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Test name |
Mitochondrial disorders - mutation analysis |
Synonyms or
Related Tests
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NARP (Neurogenic muscle weakness, ataxia & retinitis)
MERRF (Myoclonus Epilepsy, Ragged Red Fibres)
Mitochondrial cytopathy - mutation analysis
Pearson syndrome
Leigh's disease
MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis & Stroke-like
episodes)
Kearns-Sayre syndrome
Pigmentosa
CPEO (Chronic Progressive External Opthalmoplegia)
Pol G
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Laboratory
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Molecular Genetics (DNA lab)
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Cost
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Contact lab |
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Reporting Time
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6-8 weeks (common mutations), 6-8 weeks (rare mutations), 6-8 weeks (Pol G), 6-8 weeks (Deletion Screening), 8-10 weeks (Mutant Load), 4 days - 3 weeks (Prenatal)
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Contact
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Specimen Requirements
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Mutation analysis: (Paediatric Only)
EDTA blood: 1-5 mL
See also, the notes below for details on mtDNA analysis in the Mitochondria Lab.
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Notes
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Some heteroplasmic mtDNA mutations disappear from blood with age.
If tissue biopsies are available, these may be more suitable than blood for mtDNA
analysis.
Sample requirement for this is: muscle, liver or other tissue biopsies:
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