Molecular genetic testing

Molecular genetic testing

Mutations of Mitochondrial DNA

DisorderSymptomsGenetic defect of mtDNA (position)Suitable tissue
MELAS migraine, epilepsy, dementia, small stature, deafness, strokes, ataxia, lactic acidosis 3243, 3256, 3250 blood, muscle, fibroblasts
MERRF myoclonus-epilepsy, ataxia, myopathy, ragged-red fibres, optic atrophy 8344, 8356, 8363 blood, muscle, fibroblasts
CPEO progressive ptosis, external ophthalmoplegia Deletions blood, muscle
Kearns-Sayre-Syndrom CPEO plus pigmentary retinopathy, cardiomyopathy, onset <20ys deletions blood, muscle
NARP sensory neuropathy, ataxia, pigmentary retinopathy, epilepsy 8993 blood, muscle, fibroblasts
LHON Lebers hereditary optic neuropathy (subacute sequential bilateral loss of vision in young men) 3460, 11778, 14459, 14484 blood, muscle, fibroblasts
Mitochondrial Myopathy proximal myopathy, myalgias, cardiomyopathy (also as solitary symptom) 3302, 3260 blood, muscle, fibroblasts
Familial deafness aminoglycoside-induced familial deafness 1555 blood
Depending on the clinical and biochemical findings we also offer complete sequencing of the mtDNA to investigate for rare mutations.

  

Mutations of nuclear DNA

DisorderSymptomsGenetic defect of nDNASuitable 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