Molecular genetic testing
Molecular genetic testing
Mutations of Mitochondrial DNA
Depending on the clinical and biochemical findings we also offer complete sequencing of the mtDNA to investigate for rare mutations.
Mutations of nuclear DNA
Disorder | Symptoms | Genetic defect of nDNA | Suitable tissue |
---|---|---|---|
POLG-deficiency | aut.-dom. PEO, neuropathy, ataxia, myopathy, Parkinson | POLG-gene (sequencing) | blood |
Twinkle-deficiency | aut.-dom. PEO, myopathy, neuropathy, ataxia, parkinson-syndrome | Twinkle-gene (sequencing) | blood |
ANT1-deficiency | aut.-dom. PEO, myopathy, deafness, cataracts | ANT1-gene (sequencing) | blood |
Leigh | Psychomotor retardation, ataxia, hypotonia, respiratory difficulties | SURF-1 gene (sequencing of all exons) | blood |
MNGIE | CPEO, diarrhoa, pseudoobstruction, gastroparesis, cachexia, polyneuropathy, leukencephalopathy | ECGF1-gene | blood, muscle |
ETF-dehydrogenase deficiency, multiple acyl-CoA-dehydrogenase deficiency | lipid storage myopathy ("myopathic coenzyme Q10 deficiency"), glutaric aciduria type II | ETFDH-gene | blood |
ETF-deficiency, MAD-deficiency | glutaric aciduria type II | ETFA-gene, ETFB-gene | blood |
Primary Coenzyme-Q deficiency | Ataxia, encephalopathy, nephropathy, lipid storage myopathy | CoQ1-CoQ10 gene | blood, muscle |